Variant report

Variant	esv21024
Chromosome Location	chr22:22997590-23248950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7231)
CpG islands
(count:183)
Chromatin interactive
region (count:533)
LncRNA
region (count:40)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:7231 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23030066-23030494	K562	blood:	n/a	n/a
2	ARID3A	chr22:23035867-23036079	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23062845-23063144	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:23071123-23071265	K562	blood:	n/a	n/a
5	ARID3A	chr22:23096142-23096349	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:23062560-23063183	K562	blood:	n/a	n/a
7	ARID3A	chr22:23088195-23088474	K562	blood:	n/a	n/a
8	ARID3A	chr22:23185588-23185620	K562	blood:	n/a	n/a
9	ARID3A	chr22:23095901-23096393	K562	blood:	n/a	n/a
10	ARID3A	chr22:23122421-23122441	K562	blood:	n/a	n/a
11	ARID3A	chr22:23008889-23009175	K562	blood:	n/a	n/a
12	ARID3A	chr22:23112680-23113069	K562	blood:	n/a	n/a
13	ARID3A	chr22:23123576-23123779	K562	blood:	n/a	n/a
14	ARID3A	chr22:23035299-23035558	K562	blood:	n/a	n/a
15	ARID3A	chr22:23052055-23052419	K562	blood:	n/a	n/a
16	ARID3A	chr22:23226039-23226556	K562	blood:	n/a	n/a
17	ARID3A	chr22:23119431-23119566	K562	blood:	n/a	n/a
18	ARID3A	chr22:23232773-23233217	K562	blood:	n/a	n/a
19	ATF1	chr22:23069790-23071225	K562	blood:	n/a	n/a
20	ATF1	chr22:23051684-23052479	K562	blood:	n/a	n/a
21	ATF1	chr22:23090785-23091442	K562	blood:	n/a	n/a
22	ATF1	chr22:23143924-23144313	K562	blood:	n/a	n/a
23	ATF1	chr22:23205769-23206087	K562	blood:	n/a	n/a
24	ATF1	chr22:23102745-23102967	K562	blood:	n/a	n/a
25	ATF1	chr22:23086152-23086162	K562	blood:	n/a	n/a
26	ATF1	chr22:23023316-23024282	K562	blood:	n/a	n/a
27	ATF1	chr22:23008729-23009343	K562	blood:	n/a	n/a
28	ATF1	chr22:23030085-23030856	K562	blood:	n/a	n/a
29	ATF1	chr22:23049106-23049877	K562	blood:	n/a	n/a
30	ATF1	chr22:23124165-23124332	K562	blood:	n/a	n/a
31	ATF1	chr22:23065741-23065840	K562	blood:	n/a	n/a
32	ATF1	chr22:23182682-23182828	K562	blood:	n/a	n/a
33	ATF1	chr22:23203233-23203487	K562	blood:	n/a	n/a
34	ATF1	chr22:23112583-23113133	K562	blood:	n/a	n/a
35	ATF1	chr22:23172635-23172845	K562	blood:	n/a	n/a
36	ATF1	chr22:23194742-23194752	K562	blood:	n/a	n/a
37	ATF1	chr22:23033508-23033642	K562	blood:	n/a	n/a
38	ATF1	chr22:23077868-23077944	K562	blood:	n/a	n/a
39	ATF1	chr22:23024633-23025698	K562	blood:	n/a	n/a
40	ATF1	chr22:23233172-23233190	K562	blood:	n/a	n/a
41	ATF1	chr22:23189882-23189945	K562	blood:	n/a	n/a
42	ATF1	chr22:23105060-23105238	K562	blood:	n/a	n/a
43	ATF1	chr22:23144811-23145247	K562	blood:	n/a	n/a
44	ATF1	chr22:23246000-23246189	K562	blood:	n/a	n/a
45	ATF1	chr22:23162146-23162529	K562	blood:	n/a	n/a
46	ATF1	chr22:23084998-23085399	K562	blood:	n/a	n/a
47	ATF1	chr22:23169293-23169433	K562	blood:	n/a	n/a
48	ATF1	chr22:23066966-23067564	K562	blood:	n/a	n/a
49	ATF1	chr22:23014576-23014671	K562	blood:	n/a	n/a
50	ATF1	chr22:23062505-23065315	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23196862-23196912	GM06990	blood:	n/a
2	chr22:23196862-23196912	GM12891	blood:	n/a
3	chr22:23196971-23197021	CMK	blood:	n/a
4	chr22:23196971-23197021	HEK293	kidney:	embryo
5	chr22:23196971-23197021	HCT-116	colon:	n/a
6	chr22:23196971-23197021	NH-A	brain:	n/a
7	chr22:23196971-23197021	AoSMC	blood vessel:	n/a
8	chr22:23196862-23196912	Caco-2	colon:	n/a
9	chr22:23003332-23003382	SKMC	muscle:	n/a
10	chr22:23196862-23196912	AoSMC	blood vessel:	n/a
11	chr22:23196971-23197021	HUVEC	blood vessel:	n/a
12	chr22:23003332-23003382	A549	lung:	n/a
13	chr22:23003332-23003382	H1-hESC	embryonic stem cell:	embryo
14	chr22:23003332-23003382	U87	brain:	n/a
15	chr22:23003332-23003382	HepG2	liver:	n/a
16	chr22:23196971-23197021	HMEC	breast:	n/a
17	chr22:23003332-23003382	HCT-116	colon:	n/a
18	chr22:23003332-23003382	GM12891	blood:	n/a
19	chr22:23196862-23196912	HRCEpiC	kidney:	n/a
20	chr22:23196862-23196912	HL-60	blood:	n/a
21	chr22:23196971-23197021	Caco-2	colon:	n/a
22	chr22:23196862-23196912	SK-N-MC	brain:	n/a
23	chr22:23003332-23003382	AG09319	gingival:	n/a
24	chr22:23196971-23197021	BE2_C	brain:	n/a
25	chr22:23196862-23196912	HAEpiC	amniotic membrane:	n/a
26	chr22:23196971-23197021	SK-N-MC	brain:	n/a
27	chr22:23003332-23003382	PrEC	prostate:	n/a
28	chr22:23003332-23003382	HUVEC	blood vessel:	n/a
29	chr22:23196971-23197021	IMR90	lung:	fetal
30	chr22:23196862-23196912	A549	lung:	n/a
31	chr22:23196862-23196912	AG09319	gingival:	n/a
32	chr22:23003332-23003382	GM12892	blood:	n/a
33	chr22:23196862-23196912	HIPEpiC	eye:	n/a
34	chr22:23196862-23196912	HPAEpiC	pulmonary alveolar:	n/a
35	chr22:23196971-23197021	GM12891	blood:	n/a
36	chr22:23196971-23197021	HNPCEpiC	eye:	n/a
37	chr22:23003332-23003382	NT2-D1	testis:	n/a
38	chr22:23196862-23196912	H1-hESC	embryonic stem cell:	embryo
39	chr22:23003332-23003382	SK-N-SH_RA	brain:	n/a
40	chr22:23196971-23197021	NHBE	bronchial:	n/a
41	chr22:23196862-23196912	HEEpiC	esophagus:	n/a
42	chr22:23196971-23197021	Jurkat	blood:	n/a
43	chr22:23003332-23003382	MCF10A-Er-Src	breast:	n/a
44	chr22:23003332-23003382	GM12878	blood:	n/a
45	chr22:23003332-23003382	HIPEpiC	eye:	n/a
46	chr22:23003332-23003382	AoSMC	blood vessel:	n/a
47	chr22:23196971-23197021	Hepatocyte	liver:	n/a
48	chr22:23003332-23003382	Jurkat	blood:	n/a
49	chr22:23196971-23197021	T-47D	breast:	n/a
50	chr22:23196971-23197021	LNCaP	prostate:	n/a

(count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr22:23030757..23032962-chr22:23037867..23040415,3	K562	blood:
2	chr22:23168657..23170784-chr22:23171805..23174406,4	K562	blood:
3	chr22:23221282..23222436-chr22:23297430..23298768,6	K562	blood:
4	chr22:23152579..23153102-chr22:23222988..23223638,2	K562	blood:
5	chr22:23067294..23069392-chr22:23071816..23073739,2	MCF-7	breast:
6	chr22:23160051..23162976-chr22:23211902..23213906,2	K562	blood:
7	chr22:23221725..23222375-chr22:23284654..23285494,2	K562	blood:
8	chr22:23152249..23154023-chr22:23157229..23159032,2	K562	blood:
9	chr22:23114337..23118846-chr22:23122084..23125719,4	K562	blood:
10	chr22:23044341..23046270-chr22:23053876..23055469,2	K562	blood:
11	chr22:23198208..23199202-chr22:23207225..23207879,2	K562	blood:
12	chr22:22817987..22818671-chr22:23088295..23088910,2	K562	blood:
13	chr22:23034957..23035610-chr22:23052820..23053932,5	K562	blood:
14	chr22:23130386..23131888-chr22:23225842..23226929,13	K562	blood:
15	chr22:23225783..23226678-chr22:23297796..23299190,3	MCF-7	breast:
16	chr22:23125400..23127839-chr22:23232318..23234700,2	K562	blood:
17	chr22:23190239..23191191-chr22:23300316..23300864,2	K562	blood:
18	chr22:23029760..23030722-chr22:23225908..23226768,3	K562	blood:
19	chr22:23052932..23053844-chr22:23225037..23226369,5	K562	blood:
20	chr22:23088995..23090989-chr22:23106393..23109304,2	K562	blood:
21	chr22:23112678..23113353-chr22:23153551..23154062,2	K562	blood:
22	chr22:23190217..23192140-chr22:23297702..23298803,18	K562	blood:
23	chr22:23053361..23053890-chr22:23470302..23470878,2	K562	blood:
24	chr22:23145087..23146964-chr22:23157198..23158794,2	K562	blood:
25	chr22:23084114..23086702-chr22:23091006..23093288,3	K562	blood:
26	chr22:22809469..22812282-chr22:23022479..23024471,2	K562	blood:
27	chr22:23190657..23191158-chr22:23221234..23221856,2	MCF-7	breast:
28	chr22:23096146..23096820-chr22:23130375..23130912,2	K562	blood:
29	chr22:23052682..23053499-chr22:23107688..23108625,2	K562	blood:
30	chr22:23033030..23033767-chr22:23041339..23042090,2	K562	blood:
31	chr22:22929292..22930184-chr22:23219224..23220044,2	K562	blood:
32	chr22:22955152..22958026-chr22:23218543..23221300,2	K562	blood:
33	chr22:23151728..23153719-chr22:23225682..23227093,23	K562	blood:
34	chr22:23100542..23103105-chr22:23110241..23112926,2	K562	blood:
35	chr22:23052682..23053499-chr22:23107688..23108625,2	K562	blood:
36	chr22:23071423..23072934-chr22:23093523..23095397,2	K562	blood:
37	chr22:23034693..23035509-chr22:23095775..23096475,2	K562	blood:
38	chr22:23197409..23198941-chr22:23225846..23227235,10	K562	blood:
39	chr22:23181478..23184287-chr22:23201719..23203304,2	K562	blood:
40	chr22:23153233..23155307-chr22:23180812..23183590,2	K562	blood:
41	chr22:23113576..23115260-chr22:23130056..23132006,2	K562	blood:
42	chr22:23096146..23096820-chr22:23130375..23130912,2	K562	blood:
43	chr22:22510850..22511523-chr22:23029816..23030698,2	K562	blood:
44	chr22:22899879..22901687-chr22:23004735..23007692,2	K562	blood:
45	chr22:23008854..23009551-chr22:23029940..23030690,2	MCF-7	breast:
46	chr22:23062701..23064347-chr22:23112525..23115291,2	K562	blood:
47	chr22:23153953..23157348-chr22:23159325..23163829,7	K562	blood:
48	chr22:23197196..23198079-chr22:23219738..23220255,2	MCF-7	breast:
49	chr22:23190267..23191637-chr22:23219306..23220272,3	MCF-7	breast:
50	chr22:22901161..22902756-chr22:22996103..22998158,2	K562	blood:

(count:40 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL5-4	chr22:23192550-23192799	NONHSAT083828
2	lnc-IGLL5-5	chr22:23180779-23181049	NONHSAT083827
3	lnc-POM121L1P-5	chr22:23197736-23197863	refGeneNc_260_NR_028483
4	lnc-GGTLC2-8	chr22:23081432-23081675	NONHSAT083816
5	lnc-POM121L1P-3	chr22:23048732-23048890	NONHSAT083813
6	lnc-GGTLC2-7	chr22:23043245-23043455	NONHSAT083812
7	lnc-POM121L1P-5	chr22:23164245-23164726	refGeneNc_260_NR_028483
8	lnc-POM121L1P-1	chr22:23038579-23038911	NONHSAT083810
9	lnc-POM121L1P-5	chr22:23200951-23201121	refGeneNc_260_NR_028483
10	lnc-POM121L1P-1	chr22:23035263-23035547	ENSG00000223999
11	lnc-POM121L1P-1	chr22:23035358-23035378	NONHSAT083808
12	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
13	lnc-POM121L1P-3	chr22:23053951-23054068	NONHSAT083813
14	lnc-RTDR1-6	chr22:23221233-23221684	NONHSAT083832
15	lnc-POM121L1P-5	chr22:23178179-23178296	refGeneNc_260_NR_028483
16	lnc-IGLL5-7	chr22:23157168-23157423	NONHSAT083824
17	lnc-GGTLC2-3	chr22:23006943-23006988	NONHSAT083803
18	lnc-GGTLC2-4	chr22:23015829-23016072	NONHSAT083804
19	lnc-POM121L1P-1	chr22:23045057-23045160	NONHSAT083810
20	lnc-GGTLC2-6	chr22:23021570-23021818	NONHSAT083805
21	lnc-POM121L1P-1	chr22:23045057-23045160	NONHSAT083808
22	lnc-POM121L1P-1	chr22:23045437-23045463	NONHSAT083810
23	lnc-POM121L1P-1	chr22:23035632-23035916	NONHSAT083808
24	lnc-POM121L1P-5	chr22:23220658-23220783	refGeneNc_260_NR_028483
25	lnc-POM121L1P-1	chr22:23045437-23045463	NONHSAT083808
26	lnc-GGTLC2-10	chr22:23104787-23105009	NONHSAT083819
27	lnc-POM121L1P-5	chr22:23165262-23165535	refGeneNc_260_NR_028483
28	lnc-GGTLC2-4	chr22:23015622-23015679	NONHSAT083804
29	lnc-POM121L1P-4	chr22:23155178-23156344	ucscGeneNc_uc002zzz_1
30	lnc-POM121L1P-5	chr22:23167960-23168108	refGeneNc_260_NR_028483
31	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
32	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
33	lnc-POM121L1P-1	chr22:23035462-23035547	NONHSAT083808
34	lnc-POM121L1P-1	chr22:23038799-23038911	NONHSAT083808
35	lnc-POM121L1P-5	chr22:23186421-23186739	refGeneNc_260_NR_028483
36	lnc-GGTLC2-9	chr22:23098043-23098286	NONHSAT083817
37	lnc-RTDR1-6	chr22:23220011-23220059	NONHSAT083832
38	lnc-POM121L1P-1	chr22:23035632-23035797	ENSG00000223999
39	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
40	lnc-GGTLC2-3	chr22:23007120-23007377	NONHSAT083803

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5571-3p	chr22:23228511-23228529	MIMAT0022258
hsa-miR-5571-5p	chr22:23228471-23228491	MIMAT0022257
hsa-miR-650	chr22:23165285-23165305	MIMAT0003320

No data

Variant related genes	Relation type
ENSG00000264824	TF binding region
IGLV3-7	TF binding region
ENSG00000207833	TF binding region
MIR650	TF binding region
ENSG00000226477	TF binding region
ENSG00000207832	TF binding region
IGLV4-3	TF binding region
IGLV3-2	TF binding region
IGLV3-13	TF binding region
IGLV3-4	TF binding region
ENSG00000237127	TF binding region
ENSG00000232350	TF binding region
IGLC1	TF binding region
IGLV3-6	TF binding region
IGLV2-5	TF binding region
IGLV3-16	TF binding region
IGLV2-18	TF binding region
IGLV3-17	TF binding region
ENSG00000264629	TF binding region
IGLVVI-22-1	TF binding region
IGLJ4	TF binding region
ENSG00000207830	TF binding region
IGLC4	TF binding region
IGLV3-12	TF binding region
IGLV3-25	TF binding region
ENSG00000207835	TF binding region
ENSG00000231392	TF binding region
IGLV2-23	TF binding region
IGLJ2	TF binding region
ENSG00000207834	TF binding region
IGLV2-8	TF binding region
IGLV2-28	TF binding region
IGLV3-10	TF binding region
IGLV2-11	TF binding region
IGLVVI-25-1	TF binding region
IGLV3-15	TF binding region
IGLV3-26	TF binding region
IGLL5	TF binding region
IGLJ3	TF binding region
IGLV3-19	TF binding region
IGLV3-24	TF binding region
ENSG00000223999	TF binding region
IGLV3-22	TF binding region
IGLV3-27	TF binding region
IGLC3	TF binding region
IGLV3-9	TF binding region
IGLV2-14	TF binding region
IGLVI-20	TF binding region
IGLV3-1	TF binding region
IGLJ1	TF binding region
IGLV3-21	TF binding region
IGLV3-29	TF binding region
IGLC2	TF binding region
ENSG00000264824	CpG island
IGLV3-7	CpG island
ENSG00000207833	CpG island
MIR650	CpG island
ENSG00000226477	CpG island
ENSG00000207832	CpG island
IGLV4-3	CpG island
IGLV3-2	CpG island
IGLV3-13	CpG island
IGLV3-4	CpG island
ENSG00000237127	CpG island
ENSG00000232350	CpG island
IGLC1	CpG island
IGLV3-6	CpG island
IGLV2-5	CpG island
IGLV3-16	CpG island
IGLV2-18	CpG island
IGLV3-17	CpG island
ENSG00000264629	CpG island
IGLVVI-22-1	CpG island
IGLJ4	CpG island
ENSG00000207830	CpG island
IGLC4	CpG island
IGLV3-12	CpG island
IGLV3-25	CpG island
ENSG00000207835	CpG island
ENSG00000231392	CpG island
IGLV2-23	CpG island
IGLJ2	CpG island
ENSG00000207834	CpG island
IGLV2-8	CpG island
IGLV2-28	CpG island
IGLV3-10	CpG island
IGLV2-11	CpG island
IGLVVI-25-1	CpG island
IGLV3-15	CpG island
IGLV3-26	CpG island
IGLL5	CpG island
IGLJ3	CpG island
IGLV3-19	CpG island
IGLV3-24	CpG island
ENSG00000223999	CpG island
IGLV3-22	CpG island
IGLV3-27	CpG island
IGLC3	CpG island
IGLV3-9	CpG island
IGLV2-14	CpG island
IGLVI-20	CpG island
IGLV3-1	CpG island
IGLJ1	CpG island
IGLV3-21	CpG island
IGLV3-29	CpG island
IGLC2	CpG island
ENSG00000236794	chromatin interactions
ENSG00000226595	chromatin interactions
ENSG00000211660	chromatin interactions
ENSG00000253451	chromatin interactions
ENSG00000211662	chromatin interactions
ENSG00000253338	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000211661	chromatin interactions
ENSG00000211666	chromatin interactions
ENSG00000211664	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000211665	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000253590	chromatin interactions
ENSG00000254240	chromatin interactions
ENSG00000231392	chromatin interactions
ENSG00000253779	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000254077	chromatin interactions
ENSG00000211656	chromatin interactions
ENSG00000211669	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211653	chromatin interactions
ENSG00000207830	chromatin interactions
ENSG00000232350	chromatin interactions
ENSG00000207834	chromatin interactions
ENSG00000207835	chromatin interactions
ENSG00000211667	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000254709	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000253546	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000253822	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000207836	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000211658	chromatin interactions
ENSG00000187556	chromatin interactions
ENSG00000253786	chromatin interactions
ENSG00000253448	chromatin interactions
ENSG00000253152	chromatin interactions
ENSG00000211659	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000211671	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000211670	chromatin interactions
ENSG00000253913	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000237127	chromatin interactions
ING4	Mature miRNA region

Extended variants
information (count: 15126 )
Associated
traits (count: 218 )

Variant overlapped rSNPs/rCNVs (count:15126 , 50 per page) page: 1 2 3 4 5 6 7 ... 303

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562047855	chr22:22997626-22997627	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs530985500	chr22:22997682-22997683	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs535248033	chr22:22997702-22997703	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs537162712	chr22:22997713-22997714	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs186229461	chr22:22997761-22997762	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs574558108	chr22:22997773-22997774	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs191662734	chr22:22997801-22997802	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs560100703	chr22:22997817-22997818	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs73881203	chr22:22997826-22997827	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183566600	chr22:22997882-22997883	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs75910121	chr22:22997956-22997957	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs56396326	chr22:22997973-22997974	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561790920	chr22:22998003-22998004	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs527361397	chr22:22998021-22998022	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs373890049	chr22:22998033-22998034	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs186369350	chr22:22998039-22998040	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs461862	chr22:22998050-22998051	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs8141949	chr22:22998124-22998125	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569809370	chr22:22998135-22998136	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs5751482	chr22:22998136-22998137	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555243683	chr22:22998168-22998169	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs145286231	chr22:22998169-22998170	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs553796304	chr22:22998171-22998172	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs576831131	chr22:22998203-22998204	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs555218175	chr22:22998222-22998223	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs556497319	chr22:22998230-22998231	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs545839303	chr22:22998287-22998288	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs79919660	chr22:22998320-22998321	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs6003181	chr22:22998337-22998338	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs542441074	chr22:22998344-22998345	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs562254209	chr22:22998372-22998373	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs527421742	chr22:22998419-22998420	Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs191269408	chr22:22998454-22998455	Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs457586	chr22:22998475-22998476	Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182346791	chr22:22998508-22998509	Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs549475810	chr22:22998579-22998580	Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs186573552	chr22:22998603-22998604	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs535363644	chr22:22998607-22998608	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs8136720	chr22:22998610-22998611	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6003182	chr22:22998633-22998634	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs17500429	chr22:22998649-22998650	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs573367012	chr22:22998665-22998666	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553859535	chr22:22998723-22998724	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs147651196	chr22:22998802-22998803	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs372074879	chr22:22998838-22998839	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs372063636	chr22:22998882-22998883	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs559175063	chr22:22998892-22998893	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs556264589	chr22:22998897-22998898	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs191013909	chr22:22998914-22998915	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs565576886	chr22:22998916-22998917	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:218)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1724 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22985400-23003400	Weak transcription	Right Atrium	heart
2	chr22:22994000-22998400	Enhancers	Dnd41	blood
3	chr22:22995000-22997600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:22995200-22998000	Enhancers	Fetal Thymus	thymus
5	chr22:22995400-22997600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:22995400-22997800	Weak transcription	HSMMtube	muscle
7	chr22:22995800-22997600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:22996000-22997800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr22:22996400-22997600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr22:22996400-22998000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr22:22996400-22999000	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:22996600-22997600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:22996600-22997600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr22:22996600-22997800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:22997400-22998400	Enhancers	Thymus	Thymus
16	chr22:22997600-22997800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:22997600-22998000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:22997600-22998000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr22:22997800-22998200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:22998200-22998600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:22999000-22999200	Enhancers	Fetal Muscle Leg	muscle
22	chr22:23003400-23007200	Strong transcription	Right Atrium	heart
23	chr22:23004200-23004400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr22:23004800-23005000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:23004800-23007400	Enhancers	Dnd41	blood
26	chr22:23005000-23010600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr22:23006000-23009000	Weak transcription	Thymus	Thymus
28	chr22:23006200-23006400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:23006400-23006600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:23006400-23006600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:23007200-23009000	Weak transcription	Right Atrium	heart
32	chr22:23007400-23012800	Weak transcription	Dnd41	blood
33	chr22:23008600-23009200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:23008600-23009400	Enhancers	HSMMtube	muscle
35	chr22:23009000-23009400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:23009000-23009400	Strong transcription	Right Atrium	heart
37	chr22:23009000-23011000	Enhancers	Primary B cells from peripheral blood	blood
38	chr22:23009000-23011200	Enhancers	Primary B cells from cord blood	blood
39	chr22:23009200-23009400	Enhancers	Thymus	Thymus
40	chr22:23009200-23009400	Enhancers	GM12878-XiMat	blood
41	chr22:23009200-23009600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:23009200-23010400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:23009400-23009600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr22:23009400-23010200	Weak transcription	Right Atrium	heart
45	chr22:23009400-23010400	Weak transcription	GM12878-XiMat	blood
46	chr22:23010200-23011000	Strong transcription	Right Atrium	heart
47	chr22:23010400-23010800	Enhancers	GM12878-XiMat	blood
48	chr22:23010400-23011000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:23010600-23011000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr22:23010600-23011000	Enhancers	Spleen	Spleen

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