Variant report

Variant	nsv1056543
Chromosome Location	chr22:23040138-23255556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5918)
CpG islands
(count:122)
Chromatin interactive
region (count:479)
LncRNA
region (count:29)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:5918 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23062845-23063144	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23112680-23113069	K562	blood:	n/a	n/a
3	ARID3A	chr22:23088195-23088474	K562	blood:	n/a	n/a
4	ARID3A	chr22:23119431-23119566	K562	blood:	n/a	n/a
5	ARID3A	chr22:23096142-23096349	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:23185588-23185620	K562	blood:	n/a	n/a
7	ARID3A	chr22:23071123-23071265	K562	blood:	n/a	n/a
8	ARID3A	chr22:23052055-23052419	K562	blood:	n/a	n/a
9	ARID3A	chr22:23122421-23122441	K562	blood:	n/a	n/a
10	ARID3A	chr22:23095901-23096393	K562	blood:	n/a	n/a
11	ARID3A	chr22:23226039-23226556	K562	blood:	n/a	n/a
12	ARID3A	chr22:23062560-23063183	K562	blood:	n/a	n/a
13	ARID3A	chr22:23123576-23123779	K562	blood:	n/a	n/a
14	ARID3A	chr22:23232773-23233217	K562	blood:	n/a	n/a
15	ATF1	chr22:23079247-23079496	K562	blood:	n/a	n/a
16	ATF1	chr22:23202075-23202247	K562	blood:	n/a	n/a
17	ATF1	chr22:23071617-23072206	K562	blood:	n/a	n/a
18	ATF1	chr22:23104460-23104637	K562	blood:	n/a	n/a
19	ATF1	chr22:23223851-23224186	K562	blood:	n/a	n/a
20	ATF1	chr22:23180385-23181176	K562	blood:	n/a	n/a
21	ATF1	chr22:23167850-23168098	K562	blood:	n/a	n/a
22	ATF1	chr22:23145476-23145970	K562	blood:	n/a	n/a
23	ATF1	chr22:23158393-23159026	K562	blood:	n/a	n/a
24	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
25	ATF1	chr22:23162146-23162529	K562	blood:	n/a	n/a
26	ATF1	chr22:23147092-23147291	K562	blood:	n/a	n/a
27	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
28	ATF1	chr22:23213112-23213543	K562	blood:	n/a	n/a
29	ATF1	chr22:23172635-23172845	K562	blood:	n/a	n/a
30	ATF1	chr22:23151564-23151800	K562	blood:	n/a	n/a
31	ATF1	chr22:23210661-23211009	K562	blood:	n/a	n/a
32	ATF1	chr22:23086480-23086640	K562	blood:	n/a	n/a
33	ATF1	chr22:23129491-23129501	K562	blood:	n/a	n/a
34	ATF1	chr22:23234038-23234184	K562	blood:	n/a	n/a
35	ATF1	chr22:23182682-23182828	K562	blood:	n/a	n/a
36	ATF1	chr22:23138336-23138394	K562	blood:	n/a	n/a
37	ATF1	chr22:23072639-23072759	K562	blood:	n/a	n/a
38	ATF1	chr22:23066154-23066203	K562	blood:	n/a	n/a
39	ATF1	chr22:23086152-23086162	K562	blood:	n/a	n/a
40	ATF1	chr22:23094264-23095307	K562	blood:	n/a	n/a
41	ATF1	chr22:23194742-23194752	K562	blood:	n/a	n/a
42	ATF1	chr22:23069790-23071225	K562	blood:	n/a	n/a
43	ATF1	chr22:23107124-23107149	K562	blood:	n/a	n/a
44	ATF1	chr22:23203811-23204540	K562	blood:	n/a	n/a
45	ATF1	chr22:23110486-23110686	K562	blood:	n/a	n/a
46	ATF1	chr22:23166948-23167148	K562	blood:	n/a	n/a
47	ATF1	chr22:23077868-23077944	K562	blood:	n/a	n/a
48	ATF1	chr22:23127751-23127938	K562	blood:	n/a	n/a
49	ATF1	chr22:23062505-23065315	K562	blood:	n/a	n/a
50	ATF1	chr22:23146315-23146329	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	HEEpiC	esophagus:	n/a
2	chr22:23196862-23196912	HL-60	blood:	n/a
3	chr22:23196971-23197021	NB4	blood:	n/a
4	chr22:23196971-23197021	HCT-116	colon:	n/a
5	chr22:23196971-23197021	HUVEC	blood vessel:	n/a
6	chr22:23196862-23196912	T-47D	breast:	n/a
7	chr22:23196971-23197021	U87	brain:	n/a
8	chr22:23196862-23196912	PrEC	prostate:	n/a
9	chr22:23196971-23197021	HRE	kidney:	n/a
10	chr22:23196971-23197021	H1-hESC	embryonic stem cell:	embryo
11	chr22:23196862-23196912	ovcar-3	ovarian:	n/a
12	chr22:23196971-23197021	ovcar-3	ovarian:	n/a
13	chr22:23196862-23196912	HCF	heart:	n/a
14	chr22:23196862-23196912	HepG2	liver:	n/a
15	chr22:23196971-23197021	PANC-1	pancreas:	n/a
16	chr22:23196862-23196912	HIPEpiC	eye:	n/a
17	chr22:23196862-23196912	NB4	blood:	n/a
18	chr22:23196862-23196912	IMR90	lung:	fetal
19	chr22:23196862-23196912	LNCaP	prostate:	n/a
20	chr22:23196862-23196912	SKMC	muscle:	n/a
21	chr22:23196971-23197021	Hepatocyte	liver:	n/a
22	chr22:23196971-23197021	SK-N-SH	brain:	n/a
23	chr22:23196971-23197021	HRCEpiC	kidney:	n/a
24	chr22:23196971-23197021	GM12891	blood:	n/a
25	chr22:23196971-23197021	BE2_C	brain:	n/a
26	chr22:23196971-23197021	HL-60	blood:	n/a
27	chr22:23196862-23196912	HRE	kidney:	n/a
28	chr22:23196971-23197021	PrEC	prostate:	n/a
29	chr22:23196862-23196912	HCPEpiC	choroid plexus:	n/a
30	chr22:23196862-23196912	ECC-1	luminal epithelium:	n/a
31	chr22:23196971-23197021	HCF	heart:	n/a
32	chr22:23196971-23197021	GM06990	blood:	n/a
33	chr22:23196971-23197021	Jurkat	blood:	n/a
34	chr22:23196862-23196912	HCM	heart:	n/a
35	chr22:23196971-23197021	LNCaP	prostate:	n/a
36	chr22:23196971-23197021	HEK293	kidney:	embryo
37	chr22:23196862-23196912	PANC-1	pancreas:	n/a
38	chr22:23196862-23196912	Hepatocyte	liver:	n/a
39	chr22:23196862-23196912	MCF-7	breast:	n/a
40	chr22:23196971-23197021	HRPEpiC	eye:	n/a
41	chr22:23196971-23197021	NHDF-neo	bronchial:	n/a
42	chr22:23196862-23196912	GM12892	blood:	n/a
43	chr22:23196971-23197021	A549	lung:	n/a
44	chr22:23196862-23196912	H1-hESC	embryonic stem cell:	embryo
45	chr22:23196862-23196912	A549	lung:	n/a
46	chr22:23196971-23197021	HepG2	liver:	n/a
47	chr22:23196862-23196912	Jurkat	blood:	n/a
48	chr22:23196971-23197021	ProgFib	skin:	n/a
49	chr22:23196971-23197021	HAEpiC	amniotic membrane:	n/a
50	chr22:23196862-23196912	AoSMC	blood vessel:	n/a

(count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Distal block	Cell Line	Cell type
1	chr22:22936334..22937118-chr22:23062451..23063036,3	K562	blood:
2	chr22:23190239..23191191-chr22:23300316..23300864,2	K562	blood:
3	chr22:23108876..23110628-chr22:23461887..23463461,2	K562	blood:
4	chr22:23105617..23107256-chr22:23110516..23112530,3	K562	blood:
5	chr22:23150428..23152355-chr22:23226807..23228555,2	K562	blood:
6	chr22:23123971..23126580-chr22:23128735..23130931,2	K562	blood:
7	chr22:23043268..23044923-chr22:23105017..23107636,2	K562	blood:
8	chr22:23219288..23219961-chr22:23301164..23301804,2	K562	blood:
9	chr22:23130644..23132267-chr22:23201558..23203139,2	K562	blood:
10	chr22:23168657..23170784-chr22:23171805..23174406,4	K562	blood:
11	chr22:23062701..23064347-chr22:23112525..23115291,2	K562	blood:
12	chr22:23096146..23096820-chr22:23130375..23130912,2	K562	blood:
13	chr22:23211841..23214589-chr22:23214813..23217953,3	K562	blood:
14	chr22:23052895..23053802-chr22:23090485..23090994,2	MCF-7	breast:
15	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
16	chr22:23084114..23086702-chr22:23091006..23093288,3	K562	blood:
17	chr22:23086607..23088850-chr22:23208581..23210814,2	K562	blood:
18	chr22:23145558..23148585-chr22:23176672..23178832,3	K562	blood:
19	chr22:23198020..23198527-chr22:23209390..23209956,2	K562	blood:
20	chr22:23158068..23161031-chr22:23161901..23164849,3	K562	blood:
21	chr22:23225747..23228051-chr22:23236614..23239071,2	MCF-7	breast:
22	chr22:23165215..23167481-chr22:23176988..23179274,2	K562	blood:
23	chr22:23130817..23133388-chr22:23167138..23169692,2	K562	blood:
24	chr22:23095317..23097513-chr22:23111284..23113837,2	K562	blood:
25	chr22:23095736..23096392-chr22:23219351..23220241,3	MCF-7	breast:
26	chr22:23074680..23076572-chr22:23098152..23100959,3	K562	blood:
27	chr22:23203006..23203931-chr22:23230116..23230981,2	K562	blood:
28	chr22:23175812..23179209-chr22:23186134..23188076,3	K562	blood:
29	chr22:23096107..23096771-chr22:23104516..23105301,3	K562	blood:
30	chr22:23146528..23149689-chr22:23183624..23186463,3	K562	blood:
31	chr22:23054239..23055029-chr22:23225832..23226341,2	K562	blood:
32	chr22:23146528..23149689-chr22:23183624..23186463,3	K562	blood:
33	chr22:23032811..23035891-chr22:23043957..23046051,3	K562	blood:
34	chr22:23105617..23107256-chr22:23110516..23112530,3	K562	blood:
35	chr22:23192808..23196826-chr22:23225644..23227911,5	K562	blood:
36	chr22:23033030..23033767-chr22:23041339..23042090,2	K562	blood:
37	chr22:23185728..23186473-chr22:23296561..23297083,2	K562	blood:
38	chr22:23034980..23035937-chr22:23110495..23111061,2	K562	blood:
39	chr22:23112382..23113353-chr22:23225822..23226588,5	K562	blood:
40	chr22:23112482..23113319-chr22:23284645..23285620,4	K562	blood:
41	chr22:23221270..23222356-chr22:23297830..23298690,5	MCF-7	breast:
42	chr22:23212457..23213190-chr22:23224646..23225546,2	K562	blood:
43	chr22:23190267..23191637-chr22:23219306..23220272,3	MCF-7	breast:
44	chr22:23153953..23157348-chr22:23159325..23163829,7	K562	blood:
45	chr22:23158068..23161031-chr22:23161901..23164849,3	K562	blood:
46	chr22:23190337..23191135-chr22:23277615..23278474,2	K562	blood:
47	chr22:23112086..23113814-chr22:23188708..23190847,2	K562	blood:
48	chr22:23112664..23113297-chr22:23297048..23297785,2	K562	blood:
49	chr22:23051984..23054616-chr22:23055450..23057282,2	MCF-7	breast:
50	chr22:23130105..23131333-chr22:23284629..23286108,6	K562	blood:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL5-7	chr22:23157168-23157423	NONHSAT083824
2	lnc-IGLL5-5	chr22:23180779-23181049	NONHSAT083827
3	lnc-POM121L1P-3	chr22:23053951-23054068	NONHSAT083813
4	lnc-POM121L1P-5	chr22:23165262-23165535	refGeneNc_260_NR_028483
5	lnc-GGTLC2-10	chr22:23104787-23105009	NONHSAT083819
6	lnc-GGTLC2-8	chr22:23081432-23081675	NONHSAT083816
7	lnc-POM121L1P-1	chr22:23045057-23045160	NONHSAT083810
8	lnc-POM121L1P-4	chr22:23155178-23156344	ucscGeneNc_uc002zzz_1
9	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
10	lnc-POM121L1P-1	chr22:23045437-23045463	NONHSAT083810
11	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
12	lnc-POM121L1P-5	chr22:23164245-23164726	refGeneNc_260_NR_028483
13	lnc-POM121L1P-5	chr22:23197736-23197863	refGeneNc_260_NR_028483
14	lnc-GGTLC2-7	chr22:23043245-23043455	NONHSAT083812
15	lnc-GGTLC2-9	chr22:23098043-23098286	NONHSAT083817
16	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
17	lnc-POM121L1P-3	chr22:23048732-23048890	NONHSAT083813
18	lnc-POM121L1P-1	chr22:23045437-23045463	NONHSAT083808
19	lnc-POM121L1P-1	chr22:23045057-23045160	NONHSAT083808
20	lnc-IGLL5-4	chr22:23192550-23192799	NONHSAT083828
21	lnc-RTDR1-6	chr22:23221233-23221684	NONHSAT083832
22	lnc-POM121L1P-5	chr22:23186421-23186739	refGeneNc_260_NR_028483
23	lnc-POM121L1P-5	chr22:23200951-23201121	refGeneNc_260_NR_028483
24	lnc-POM121L1P-5	chr22:23220658-23220783	refGeneNc_260_NR_028483
25	lnc-POM121L1P-5	chr22:23178179-23178296	refGeneNc_260_NR_028483
26	lnc-POM121L1P-5	chr22:23167960-23168108	refGeneNc_260_NR_028483
27	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
28	lnc-RTDR1-6	chr22:23220011-23220059	NONHSAT083832
29	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834

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

No data

Variant related genes	Relation type
ENSG00000264824	TF binding region
IGLV3-7	TF binding region
ENSG00000207832	TF binding region
IGLV4-3	TF binding region
IGLJ5	TF binding region
IGLV3-13	TF binding region
IGLC1	TF binding region
IGLV2-5	TF binding region
IGLV2-18	TF binding region
IGLV3-17	TF binding region
IGLJ6	TF binding region
IGLVVI-22-1	TF binding region
ENSG00000207830	TF binding region
IGLV3-12	TF binding region
ENSG00000207835	TF binding region
IGLJ2	TF binding region
IGLV3-15	TF binding region
IGLV3-19	TF binding region
ENSG00000223999	TF binding region
IGLV3-22	TF binding region
IGLV2-14	TF binding region
IGLVI-20	TF binding region
IGLJ1	TF binding region
ENSG00000207833	TF binding region
MIR650	TF binding region
ENSG00000226477	TF binding region
IGLV3-2	TF binding region
IGLV3-4	TF binding region
ENSG00000237127	TF binding region
IGLV3-6	TF binding region
IGLV3-16	TF binding region
ENSG00000264629	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
ENSG00000231392	TF binding region
IGLV2-23	TF binding region
IGLV2-8	TF binding region
IGLC5	TF binding region
IGLV3-10	TF binding region
IGLV2-11	TF binding region
IGLL5	TF binding region
IGLJ3	TF binding region
IGLC3	TF binding region
IGLV3-9	TF binding region
IGLV3-1	TF binding region
IGLV3-21	TF binding region
IGLC2	TF binding region
ENSG00000264824	CpG island
IGLV3-7	CpG island
ENSG00000207832	CpG island
IGLV4-3	CpG island
IGLJ5	CpG island
IGLV3-13	CpG island
IGLC1	CpG island
IGLV2-5	CpG island
IGLV2-18	CpG island
IGLV3-17	CpG island
IGLJ6	CpG island
IGLVVI-22-1	CpG island
ENSG00000207830	CpG island
IGLV3-12	CpG island
ENSG00000207835	CpG island
IGLJ2	CpG island
IGLV3-15	CpG island
IGLV3-19	CpG island
ENSG00000223999	CpG island
IGLV3-22	CpG island
IGLV2-14	CpG island
IGLVI-20	CpG island
IGLJ1	CpG island
ENSG00000207833	CpG island
MIR650	CpG island
ENSG00000226477	CpG island
IGLV3-2	CpG island
IGLV3-4	CpG island
ENSG00000237127	CpG island
IGLV3-6	CpG island
IGLV3-16	CpG island
ENSG00000264629	CpG island
IGLJ4	CpG island
IGLC4	CpG island
ENSG00000231392	CpG island
IGLV2-23	CpG island
IGLV2-8	CpG island
IGLC5	CpG island
IGLV3-10	CpG island
IGLV2-11	CpG island
IGLL5	CpG island
IGLJ3	CpG island
IGLC3	CpG island
IGLV3-9	CpG island
IGLV3-1	CpG island
IGLV3-21	CpG island
IGLC2	CpG island
ENSG00000185686	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000253546	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000207835	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000226595	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000207836	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000253590	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000253448	chromatin interactions
ENSG00000253786	chromatin interactions
ENSG00000211662	chromatin interactions
ENSG00000211664	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000253152	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000231392	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000211670	chromatin interactions
ENSG00000211671	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000254077	chromatin interactions
ENSG00000232350	chromatin interactions
ENSG00000211666	chromatin interactions
ENSG00000187556	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000211669	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000211667	chromatin interactions
ENSG00000253822	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000211665	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000254240	chromatin interactions
ENSG00000254709	chromatin interactions
ING4	Mature miRNA region

Extended variants
information (count: 13316 )
Associated
traits (count: 219 )

Variant overlapped rSNPs/rCNVs (count:13316 , 50 per page) page: 1 2 3 4 5 6 7 ... 267

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552238434	chr22:23040139-23040140	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs187070773	chr22:23040178-23040179	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs191882817	chr22:23040184-23040185	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs76719155	chr22:23040188-23040189	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs142369106	chr22:23040192-23040193	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs574212217	chr22:23040193-23040194	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs146368157	chr22:23040200-23040201	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs553539573	chr22:23040203-23040204	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs182888556	chr22:23040222-23040223	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs545679531	chr22:23040223-23040224	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs565479438	chr22:23040238-23040239	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs187321311	chr22:23040260-23040261	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs544638704	chr22:23040261-23040262	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs191776065	chr22:23040270-23040271	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs114792163	chr22:23040292-23040293	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs546430065	chr22:23040304-23040305	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs141478005	chr22:23040317-23040318	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs12170914	chr22:23040318-23040319	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552429622	chr22:23040339-23040340	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs568837866	chr22:23040353-23040354	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs5996349	chr22:23040362-23040363	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150136962	chr22:23040366-23040367	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs567776885	chr22:23040370-23040371	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs533646440	chr22:23040373-23040374	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs553634234	chr22:23040380-23040381	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs6003229	chr22:23040389-23040390	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112990747	chr22:23040397-23040398	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138606664	chr22:23040404-23040405	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs141850006	chr22:23040407-23040408	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs576023472	chr22:23040421-23040422	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs544575455	chr22:23040427-23040428	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs540190600	chr22:23040456-23040457	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs12166262	chr22:23040461-23040462	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1312	chr22:23040462-23040463	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540711319	chr22:23040476-23040477	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs560413692	chr22:23040486-23040487	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs12165881	chr22:23040487-23040488	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545704522	chr22:23040496-23040497	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs562411146	chr22:23040503-23040504	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs186741094	chr22:23040505-23040506	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs531513520	chr22:23040516-23040517	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs552011724	chr22:23040518-23040519	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs547738410	chr22:23040521-23040522	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs567717187	chr22:23040530-23040531	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs527337759	chr22:23040550-23040551	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs547454530	chr22:23040551-23040552	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs570481874	chr22:23040553-23040554	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs539188338	chr22:23040563-23040564	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs558893130	chr22:23040570-23040571	Enhancers Weak transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs569524182	chr22:23040571-23040572	Enhancers Weak transcription Active TSS	TF binding region	2 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:1432 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23035800-23040200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:23037400-23040200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:23038000-23040200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:23038200-23045000	Weak transcription	Right Atrium	heart
5	chr22:23039800-23042600	Enhancers	Primary B cells from peripheral blood	blood
6	chr22:23040000-23040200	Active TSS	GM12878-XiMat	blood
7	chr22:23040000-23041400	Enhancers	Primary B cells from cord blood	blood
8	chr22:23040200-23040400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr22:23040200-23040400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:23040200-23040400	Flanking Active TSS	GM12878-XiMat	blood
11	chr22:23040200-23041000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:23040200-23041800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:23040400-23040600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:23040400-23040800	Active TSS	GM12878-XiMat	blood
15	chr22:23040600-23041000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:23041000-23044200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:23041000-23044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:23041400-23044800	Weak transcription	Primary B cells from cord blood	blood
19	chr22:23042600-23049000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr22:23043800-23045800	Enhancers	Fetal Intestine Large	intestine
21	chr22:23044200-23046000	Enhancers	Stomach Mucosa	stomach
22	chr22:23044200-23047400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:23044400-23046000	Enhancers	Duodenum Mucosa	Duodenum
24	chr22:23044400-23046800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:23044400-23047000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:23044400-23047200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:23044600-23045400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr22:23044800-23045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:23044800-23045600	Enhancers	Primary B cells from cord blood	blood
30	chr22:23045000-23045200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:23045000-23045400	Enhancers	Fetal Intestine Small	intestine
32	chr22:23045000-23045600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:23045000-23047400	Strong transcription	Right Atrium	heart
34	chr22:23045200-23047000	Enhancers	A549	lung
35	chr22:23045600-23046000	Enhancers	NHDF-Ad	bronchial
36	chr22:23045600-23046600	Enhancers	HSMM	muscle
37	chr22:23045600-23046800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:23045600-23046800	Weak transcription	Primary B cells from cord blood	blood
39	chr22:23045800-23046200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:23045800-23046600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:23045800-23046800	Weak transcription	Fetal Intestine Large	intestine
42	chr22:23046000-23046800	Enhancers	Liver	Liver
43	chr22:23046000-23051000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr22:23046800-23047000	Enhancers	Fetal Intestine Large	intestine
45	chr22:23046800-23047400	Enhancers	Primary B cells from cord blood	blood
46	chr22:23046800-23047400	Enhancers	GM12878-XiMat	blood
47	chr22:23046800-23051600	Weak transcription	Liver	Liver
48	chr22:23047400-23050800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:23047400-23051600	Weak transcription	Right Atrium	heart
50	chr22:23048800-23049000	Enhancers	Ovary	ovary

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