Variant report

Variant	nsv517485
Chromosome Location	chr22:23031579-23278593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7035)
CpG islands
(count:122)
Chromatin interactive
region (count:530)
LncRNA
region (count:41)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:7035 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23232773-23233217	K562	blood:	n/a	n/a
2	ARID3A	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23122421-23122441	K562	blood:	n/a	n/a
4	ARID3A	chr22:23062845-23063144	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:23112680-23113069	K562	blood:	n/a	n/a
6	ARID3A	chr22:23119431-23119566	K562	blood:	n/a	n/a
7	ARID3A	chr22:23035867-23036079	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:23035299-23035558	K562	blood:	n/a	n/a
9	ARID3A	chr22:23185588-23185620	K562	blood:	n/a	n/a
10	ARID3A	chr22:23123576-23123779	K562	blood:	n/a	n/a
11	ARID3A	chr22:23052055-23052419	K562	blood:	n/a	n/a
12	ARID3A	chr22:23226039-23226556	K562	blood:	n/a	n/a
13	ARID3A	chr22:23096142-23096349	HepG2	liver:	n/a	n/a
14	ARID3A	chr22:23062560-23063183	K562	blood:	n/a	n/a
15	ARID3A	chr22:23095901-23096393	K562	blood:	n/a	n/a
16	ARID3A	chr22:23071123-23071265	K562	blood:	n/a	n/a
17	ARID3A	chr22:23088195-23088474	K562	blood:	n/a	n/a
18	ATF1	chr22:23172635-23172845	K562	blood:	n/a	n/a
19	ATF1	chr22:23209457-23209711	K562	blood:	n/a	n/a
20	ATF1	chr22:23239585-23239595	K562	blood:	n/a	n/a
21	ATF1	chr22:23125167-23125353	K562	blood:	n/a	n/a
22	ATF1	chr22:23104460-23104637	K562	blood:	n/a	n/a
23	ATF1	chr22:23138336-23138394	K562	blood:	n/a	n/a
24	ATF1	chr22:23069790-23071225	K562	blood:	n/a	n/a
25	ATF1	chr22:23189882-23189945	K562	blood:	n/a	n/a
26	ATF1	chr22:23066154-23066203	K562	blood:	n/a	n/a
27	ATF1	chr22:23086152-23086162	K562	blood:	n/a	n/a
28	ATF1	chr22:23105060-23105238	K562	blood:	n/a	n/a
29	ATF1	chr22:23077868-23077944	K562	blood:	n/a	n/a
30	ATF1	chr22:23107124-23107149	K562	blood:	n/a	n/a
31	ATF1	chr22:23206769-23207349	K562	blood:	n/a	n/a
32	ATF1	chr22:23088109-23088530	K562	blood:	n/a	n/a
33	ATF1	chr22:23178289-23179177	K562	blood:	n/a	n/a
34	ATF1	chr22:23162146-23162529	K562	blood:	n/a	n/a
35	ATF1	chr22:23096027-23096489	K562	blood:	n/a	n/a
36	ATF1	chr22:23167850-23168098	K562	blood:	n/a	n/a
37	ATF1	chr22:23112583-23113133	K562	blood:	n/a	n/a
38	ATF1	chr22:23071617-23072206	K562	blood:	n/a	n/a
39	ATF1	chr22:23262737-23263489	K562	blood:	n/a	n/a
40	ATF1	chr22:23234038-23234184	K562	blood:	n/a	n/a
41	ATF1	chr22:23062505-23065315	K562	blood:	n/a	n/a
42	ATF1	chr22:23072639-23072759	K562	blood:	n/a	n/a
43	ATF1	chr22:23270547-23272244	K562	blood:	n/a	n/a
44	ATF1	chr22:23086480-23086640	K562	blood:	n/a	n/a
45	ATF1	chr22:23059701-23060377	K562	blood:	n/a	n/a
46	ATF1	chr22:23078516-23079011	K562	blood:	n/a	n/a
47	ATF1	chr22:23055701-23055768	K562	blood:	n/a	n/a
48	ATF1	chr22:23203233-23203487	K562	blood:	n/a	n/a
49	ATF1	chr22:23102745-23102967	K562	blood:	n/a	n/a
50	ATF1	chr22:23092911-23093602	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23196862-23196912	MCF-7	breast:	n/a
2	chr22:23196971-23197021	LNCaP	prostate:	n/a
3	chr22:23196971-23197021	HRPEpiC	eye:	n/a
4	chr22:23196862-23196912	Caco-2	colon:	n/a
5	chr22:23196971-23197021	AG09319	gingival:	n/a
6	chr22:23196862-23196912	NH-A	brain:	n/a
7	chr22:23196971-23197021	HRCEpiC	kidney:	n/a
8	chr22:23196862-23196912	K562	blood:	n/a
9	chr22:23196862-23196912	IMR90	lung:	fetal
10	chr22:23196971-23197021	AG04450	lung:	fetal
11	chr22:23196971-23197021	HL-60	blood:	n/a
12	chr22:23196971-23197021	HEK293	kidney:	embryo
13	chr22:23196862-23196912	AG04450	lung:	fetal
14	chr22:23196971-23197021	GM12892	blood:	n/a
15	chr22:23196971-23197021	ECC-1	luminal epithelium:	n/a
16	chr22:23196971-23197021	HRE	kidney:	n/a
17	chr22:23196971-23197021	HIPEpiC	eye:	n/a
18	chr22:23196862-23196912	GM12878	blood:	n/a
19	chr22:23196971-23197021	U87	brain:	n/a
20	chr22:23196971-23197021	HAEpiC	amniotic membrane:	n/a
21	chr22:23196971-23197021	H1-hESC	embryonic stem cell:	embryo
22	chr22:23196971-23197021	MCF-7	breast:	n/a
23	chr22:23196862-23196912	GM06990	blood:	n/a
24	chr22:23196971-23197021	BE2_C	brain:	n/a
25	chr22:23196971-23197021	NH-A	brain:	n/a
26	chr22:23196862-23196912	SK-N-SH_RA	brain:	n/a
27	chr22:23196862-23196912	SAEC	small airway:	n/a
28	chr22:23196862-23196912	BE2_C	brain:	n/a
29	chr22:23196971-23197021	AG09309	skin:	n/a
30	chr22:23196862-23196912	HRE	kidney:	n/a
31	chr22:23196971-23197021	SKMC	muscle:	n/a
32	chr22:23196862-23196912	HPAEpiC	pulmonary alveolar:	n/a
33	chr22:23196971-23197021	T-47D	breast:	n/a
34	chr22:23196971-23197021	GM19239	blood:	n/a
35	chr22:23196971-23197021	A549	lung:	n/a
36	chr22:23196971-23197021	GM06990	blood:	n/a
37	chr22:23196971-23197021	PANC-1	pancreas:	n/a
38	chr22:23196971-23197021	HPAEpiC	pulmonary alveolar:	n/a
39	chr22:23196971-23197021	Hepatocyte	liver:	n/a
40	chr22:23196971-23197021	AG10803	skin:	n/a
41	chr22:23196862-23196912	MCF10A-Er-Src	breast:	n/a
42	chr22:23196862-23196912	HUVEC	blood vessel:	n/a
43	chr22:23196862-23196912	AoSMC	blood vessel:	n/a
44	chr22:23196862-23196912	HCT-116	colon:	n/a
45	chr22:23196971-23197021	MCF10A-Er-Src	breast:	n/a
46	chr22:23196862-23196912	HRCEpiC	kidney:	n/a
47	chr22:23196862-23196912	HEK293	kidney:	embryo
48	chr22:23196862-23196912	ECC-1	luminal epithelium:	n/a
49	chr22:23196971-23197021	Hela-S3	cervix:	n/a
50	chr22:23196971-23197021	K562	blood:	n/a

(count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr22:23198020..23198527-chr22:23209390..23209956,2	K562	blood:
2	chr22:23190259..23191261-chr22:23297702..23298682,5	MCF-7	breast:
3	chr22:23190657..23191158-chr22:23221234..23221856,2	MCF-7	breast:
4	chr22:23225847..23226777-chr22:23297600..23298339,3	K562	blood:
5	chr22:23144093..23145546-chr22:23219335..23220248,5	K562	blood:
6	chr22:23117086..23119817-chr22:23129556..23132183,2	K562	blood:
7	chr22:23064916..23067703-chr22:23087194..23089140,2	K562	blood:
8	chr22:23190337..23191135-chr22:23277615..23278474,2	K562	blood:
9	chr22:23192808..23196826-chr22:23225644..23227911,5	K562	blood:
10	chr22:23064176..23064691-chr22:23297914..23298433,2	K562	blood:
11	chr22:23216880..23219381-chr22:23221889..23224092,2	K562	blood:
12	chr22:23131018..23133510-chr22:23145701..23148972,3	K562	blood:
13	chr22:23204517..23207085-chr22:23207637..23209482,2	K562	blood:
14	chr22:23208036..23209555-chr22:23429029..23430734,2	K562	blood:
15	chr22:23043268..23044923-chr22:23105017..23107636,2	K562	blood:
16	chr22:23059358..23060885-chr22:23125869..23128703,2	K562	blood:
17	chr22:23226023..23226801-chr22:23284702..23285609,3	MCF-7	breast:
18	chr22:23088995..23090989-chr22:23106393..23109304,2	K562	blood:
19	chr22:23197196..23198079-chr22:23219738..23220255,2	MCF-7	breast:
20	chr22:23095784..23096610-chr22:23233130..23233640,2	K562	blood:
21	chr22:23261255..23263406-chr22:23270232..23272923,2	MCF-7	breast:
22	chr22:23130556..23131349-chr22:23144341..23145520,3	K562	blood:
23	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
24	chr22:23195451..23196440-chr22:23280544..23281196,2	K562	blood:
25	chr22:22936660..22937178-chr22:23051853..23052853,2	K562	blood:
26	chr22:23035791..23039799-chr22:23043745..23047537,5	K562	blood:
27	chr22:23198208..23199202-chr22:23207225..23207879,2	K562	blood:
28	chr22:23209213..23217761-chr22:23218680..23225752,11	K562	blood:
29	chr22:23190267..23191637-chr22:23219306..23220272,3	MCF-7	breast:
30	chr22:23008775..23009294-chr22:23051939..23052804,2	K562	blood:
31	chr22:23149392..23151414-chr22:23260114..23262896,2	K562	blood:
32	chr22:23034335..23037149-chr22:23042123..23043808,2	K562	blood:
33	chr22:23181478..23184287-chr22:23201719..23203304,2	K562	blood:
34	chr22:23111970..23113299-chr22:23297822..23298802,4	K562	blood:
35	chr22:23034942..23035446-chr22:23090868..23091472,2	K562	blood:
36	chr22:23130361..23131337-chr22:23470306..23470892,3	K562	blood:
37	chr22:23157854..23159575-chr22:23265576..23269716,3	K562	blood:
38	chr22:23130308..23131793-chr22:23219322..23220417,8	K562	blood:
39	chr22:23144551..23145511-chr22:23470374..23471293,4	K562	blood:
40	chr22:23095784..23096610-chr22:23233130..23233640,2	K562	blood:
41	chr22:23245468..23247565-chr22:23249258..23251335,3	K562	blood:
42	chr22:23212291..23215001-chr22:23221350..23224011,2	K562	blood:
43	chr22:23040445..23042459-chr22:23047748..23049654,2	K562	blood:
44	chr22:23048153..23050183-chr22:23050619..23053165,3	K562	blood:
45	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:
46	chr22:23095751..23096677-chr22:23284775..23285721,4	K562	blood:
47	chr22:23152545..23153119-chr22:23292977..23293913,2	K562	blood:
48	chr22:23164487..23167017-chr22:23176059..23177602,2	K562	blood:
49	chr22:23131018..23133510-chr22:23145701..23148972,3	K562	blood:
50	chr22:23202890..23204399-chr22:23210498..23213311,2	K562	blood:

(count:41 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POM121L1P-1	chr22:23038799-23038911	NONHSAT083808
2	lnc-IGLL5-7	chr22:23157168-23157423	NONHSAT083824
3	lnc-POM121L1P-1	chr22:23035263-23035547	ENSG00000223999
4	lnc-RTDR1-4	chr22:23264978-23265153	NONHSAT083834
5	lnc-POM121L1P-1	chr22:23035632-23035797	ENSG00000223999
6	lnc-POM121L1P-3	chr22:23053951-23054068	NONHSAT083813
7	lnc-POM121L1P-5	chr22:23178179-23178296	refGeneNc_260_NR_028483
8	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
9	lnc-GGTLC2-7	chr22:23043245-23043455	NONHSAT083812
10	lnc-POM121L1P-1	chr22:23038579-23038911	NONHSAT083810
11	lnc-GGTLC2-10	chr22:23104787-23105009	NONHSAT083819
12	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
13	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
14	lnc-POM121L1P-4	chr22:23155178-23156344	ucscGeneNc_uc002zzz_1
15	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
16	lnc-POM121L1P-1	chr22:23045437-23045463	NONHSAT083810
17	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
18	lnc-GGTLC2-9	chr22:23098043-23098286	NONHSAT083817
19	lnc-GGTLC2-8	chr22:23081432-23081675	NONHSAT083816
20	lnc-POM121L1P-5	chr22:23220658-23220783	refGeneNc_260_NR_028483
21	lnc-POM121L1P-5	chr22:23164245-23164726	refGeneNc_260_NR_028483
22	lnc-POM121L1P-5	chr22:23200951-23201121	refGeneNc_260_NR_028483
23	lnc-POM121L1P-1	chr22:23035358-23035378	NONHSAT083808
24	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834
25	lnc-IGLL5-5	chr22:23180779-23181049	NONHSAT083827
26	lnc-POM121L1P-5	chr22:23186421-23186739	refGeneNc_260_NR_028483
27	lnc-POM121L1P-5	chr22:23197736-23197863	refGeneNc_260_NR_028483
28	lnc-POM121L1P-1	chr22:23035462-23035547	NONHSAT083808
29	lnc-POM121L1P-1	chr22:23045437-23045463	NONHSAT083808
30	lnc-IGLL5-4	chr22:23192550-23192799	NONHSAT083828
31	lnc-POM121L1P-1	chr22:23045057-23045160	NONHSAT083808
32	lnc-POM121L1P-1	chr22:23045057-23045160	NONHSAT083810
33	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
34	lnc-RTDR1-4	chr22:23264861-23264965	NONHSAT083834
35	lnc-RTDR1-6	chr22:23220011-23220059	NONHSAT083832
36	lnc-POM121L1P-3	chr22:23048732-23048890	NONHSAT083813
37	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
38	lnc-POM121L1P-1	chr22:23035632-23035916	NONHSAT083808
39	lnc-RTDR1-6	chr22:23221233-23221684	NONHSAT083832
40	lnc-POM121L1P-5	chr22:23167960-23168108	refGeneNc_260_NR_028483
41	lnc-POM121L1P-5	chr22:23165262-23165535	refGeneNc_260_NR_028483

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

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
IGLJ5	TF binding region
IGLV3-2	TF binding region
IGLC7	TF binding region
IGLV3-13	TF binding region
IGLV3-4	TF binding region
ENSG00000237127	TF binding region
IGLJ7	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
IGLJ6	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
ENSG00000207835	TF binding region
ENSG00000231392	TF binding region
IGLV2-23	TF binding region
IGLJ2	TF binding region
IGLV2-8	TF binding region
IGLC5	TF binding region
IGLV3-10	TF binding region
IGLV2-11	TF binding region
IGLV3-15	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
IGLC3	TF binding region
IGLC6	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
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
IGLJ5	CpG island
IGLV3-2	CpG island
IGLC7	CpG island
IGLV3-13	CpG island
IGLV3-4	CpG island
ENSG00000237127	CpG island
IGLJ7	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
IGLJ6	CpG island
IGLVVI-22-1	CpG island
IGLJ4	CpG island
ENSG00000207830	CpG island
IGLC4	CpG island
IGLV3-12	CpG island
ENSG00000207835	CpG island
ENSG00000231392	CpG island
IGLV2-23	CpG island
IGLJ2	CpG island
IGLV2-8	CpG island
IGLC5	CpG island
IGLV3-10	CpG island
IGLV2-11	CpG island
IGLV3-15	CpG island
IGLL5	CpG island
IGLJ3	CpG island
IGLV3-19	CpG island
IGLV3-24	CpG island
ENSG00000223999	CpG island
IGLV3-22	CpG island
IGLC3	CpG island
IGLC6	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
IGLC2	CpG island
ENSG00000211671	chromatin interactions
ENSG00000254077	chromatin interactions
ENSG00000253152	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000253448	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000211662	chromatin interactions
ENSG00000211661	chromatin interactions
ENSG00000254709	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000207830	chromatin interactions
ENSG00000211664	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000211660	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000211659	chromatin interactions
ENSG00000211670	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000253779	chromatin interactions
ENSG00000187556	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000211665	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000231392	chromatin interactions
ENSG00000211669	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000253590	chromatin interactions
ENSG00000226595	chromatin interactions
ENSG00000211656	chromatin interactions
ENSG00000232350	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000207835	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000207836	chromatin interactions
ENSG00000253546	chromatin interactions
ENSG00000253822	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000211667	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000254240	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211666	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000253786	chromatin interactions
ING4	Mature miRNA region

Extended variants
information (count: 14975 )
Associated
traits (count: 219 )

Variant overlapped rSNPs/rCNVs (count:14975 , 50 per page) page: 1 2 3 4 5 6 7 ... 300

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6003222	chr22:23031579-23031580	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs387568	chr22:23031581-23031582	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145762157	chr22:23031583-23031584	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs556235937	chr22:23031584-23031585	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs201025448	chr22:23031636-23031637	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs387847	chr22:23031640-23031641	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115993444	chr22:23031653-23031654	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs35758314	chr22:23031673-23031674	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs5751510	chr22:23031695-23031696	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs183346458	chr22:23031696-23031697	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs5996347	chr22:23031721-23031722	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs60417942	chr22:23031722-23031723	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs59861583	chr22:23031758-23031759	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371722278	chr22:23031788-23031789	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs370843086	chr22:23031797-23031798	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs373269553	chr22:23031803-23031804	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs376509045	chr22:23031805-23031806	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs370255773	chr22:23031806-23031807	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs374831425	chr22:23031808-23031809	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs367987	chr22:23031832-23031833	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545027502	chr22:23031846-23031847	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs144715182	chr22:23031921-23031922	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs16990933	chr22:23031948-23031949	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74277862	chr22:23031988-23031989	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs187645735	chr22:23032023-23032024	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs192122448	chr22:23032064-23032065	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs185235439	chr22:23032081-23032082	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs571058895	chr22:23032092-23032093	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs77841362	chr22:23032103-23032104	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs556805559	chr22:23032127-23032128	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs1297435	chr22:23032131-23032132	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs68147990	chr22:23032134-23032135	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs113727062	chr22:23032164-23032165	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs188156245	chr22:23032189-23032190	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs2576484	chr22:23032194-23032195	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs192868051	chr22:23032288-23032289	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs141086611	chr22:23032299-23032300	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs572169345	chr22:23032401-23032402	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs57326506	chr22:23032408-23032409	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs73160735	chr22:23032428-23032429	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs5751511	chr22:23032448-23032449	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138712336	chr22:23032491-23032492	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs114047163	chr22:23032517-23032518	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs563575637	chr22:23032540-23032541	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs184483036	chr22:23032556-23032557	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs188345787	chr22:23032557-23032558	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs78688927	chr22:23032580-23032581	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs528145989	chr22:23032615-23032616	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs565686697	chr22:23032618-23032619	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs551497560	chr22:23032628-23032629	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:219)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23025600-23034200	Weak transcription	Fetal Kidney	kidney
2	chr22:23025800-23034800	Weak transcription	Gastric	stomach
3	chr22:23028000-23034200	Weak transcription	A549	lung
4	chr22:23028400-23035200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:23029400-23034200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:23030000-23032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:23030000-23032400	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:23030000-23032600	Weak transcription	HSMMtube	muscle
9	chr22:23030000-23034000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr22:23030000-23035200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr22:23030000-23035600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:23030200-23034600	Weak transcription	GM12878-XiMat	blood
13	chr22:23030200-23035000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:23030200-23035200	Weak transcription	Fetal Thymus	thymus
15	chr22:23030200-23035600	Weak transcription	Colonic Mucosa	Colon
16	chr22:23030400-23033200	Weak transcription	Right Atrium	heart
17	chr22:23030400-23034800	Weak transcription	Spleen	Spleen
18	chr22:23030800-23034400	Weak transcription	Primary B cells from cord blood	blood
19	chr22:23031000-23034200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr22:23032000-23033800	Weak transcription	Liver	Liver
21	chr22:23032400-23032800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:23032400-23032800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr22:23032600-23032800	Enhancers	Fetal Muscle Leg	muscle
24	chr22:23032600-23033000	Enhancers	HSMMtube	muscle
25	chr22:23032800-23034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:23033000-23033400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:23033000-23034000	Weak transcription	HSMMtube	muscle
28	chr22:23033200-23033800	Strong transcription	Right Atrium	heart
29	chr22:23033200-23036600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:23033400-23037400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:23033600-23034600	Weak transcription	Fetal Intestine Large	intestine
32	chr22:23033600-23035600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr22:23033800-23034200	Weak transcription	Right Atrium	heart
34	chr22:23033800-23035600	Enhancers	Liver	Liver
35	chr22:23033800-23036400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:23034000-23035400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:23034000-23035600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:23034000-23035600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr22:23034000-23035800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr22:23034000-23038200	Enhancers	Pancreas	Pancrea
41	chr22:23034200-23034400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:23034200-23034400	Enhancers	Esophagus	oesophagus
43	chr22:23034200-23034400	Enhancers	Fetal Kidney	kidney
44	chr22:23034200-23034400	Enhancers	HSMMtube	muscle
45	chr22:23034200-23035400	Enhancers	A549	lung
46	chr22:23034200-23035800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr22:23034200-23035800	Enhancers	HSMM	muscle
48	chr22:23034200-23038000	Enhancers	Primary B cells from peripheral blood	blood
49	chr22:23034200-23038000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:23034200-23038200	Strong transcription	Right Atrium	heart

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