Variant report

Variant	nsv1055701
Chromosome Location	chr22:32806595-32845403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:773)
CpG islands
(count:611)
Chromatin interactive
region (count:60)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:32807476-32807814	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:32840183-32840388	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:32808085-32808795	HepG2	liver:	n/a	n/a
4	ATF1	chr22:32840166-32840437	K562	blood:	n/a	n/a
5	ATF1	chr22:32816323-32816593	K562	blood:	n/a	n/a
6	BACH1	chr22:32840071-32840452	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr22:32812977-32812997	K562	blood:	n/a	n/a
8	BACH1	chr22:32817336-32817344	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr22:32813905-32814200	GM12878	blood:	n/a	chr22:32814025-32814034
10	BATF	chr22:32813915-32814222	GM12878	blood:	n/a	chr22:32814025-32814034
11	BCL3	chr22:32812722-32813036	GM12878	blood:	n/a	n/a
12	BCLAF1	chr22:32807993-32808477	GM12878	blood:	n/a	n/a
13	BHLHE40	chr22:32813986-32814220	GM12878	blood:	n/a	n/a
14	BHLHE40	chr22:32808101-32808500	HepG2	liver:	n/a	n/a
15	CCNT2	chr22:32808120-32808320	K562	blood:	n/a	n/a
16	CEBPB	chr22:32817134-32817314	HepG2	liver:	n/a	n/a
17	CEBPB	chr22:32844959-32845323	MCF-7	breast:	n/a	chr22:32845182-32845193
18	CHD2	chr22:32808132-32808349	HepG2	liver:	n/a	n/a
19	CHD2	chr22:32814390-32814405	GM12878	blood:	n/a	n/a
20	CREB1	chr22:32808003-32808335	A549	lung:	n/a	n/a
21	CTCF	chr22:32809880-32810030	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr22:32809860-32810010	HEK293	kidney:	n/a	n/a
23	CTCF	chr22:32840235-32840390	Pancreas_OC	pancreas:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
24	CTCF	chr22:32809860-32810010	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr22:32809820-32809970	HPF	lung:	n/a	n/a
26	CTCF	chr22:32840260-32840410	GM12878	blood:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
27	CTCF	chr22:32840273-32840392	Kidney_OC	kidney:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
28	CTCF	chr22:32809860-32810010	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr22:32840136-32840474	T-47D	breast:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
30	CTCF	chr22:32809820-32809970	WI-38	lung:	n/a	n/a
31	CTCF	chr22:32840223-32840415	Spleen_OC	spleen:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
32	CTCF	chr22:32840096-32840423	HepG2	liver:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
33	CTCF	chr22:32840360-32840510	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr22:32840214-32840434	HepG2	liver:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
35	CTCF	chr22:32807968-32808002	MCF-7	breast:	n/a	n/a
36	CTCF	chr22:32809860-32810010	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr22:32807800-32807950	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr22:32809840-32809990	AG04450	lung:	n/a	n/a
39	CTCF	chr22:32810040-32810190	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr22:32809880-32810030	GM12867	blood:	n/a	n/a
41	CTCF	chr22:32840066-32840486	A549	lung:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
42	CTCF	chr22:32809742-32810018	HepG2	liver:	n/a	n/a
43	CTCF	chr22:32840246-32840419	SK-N-SH_RA	brain:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
44	CTCF	chr22:32809900-32810050	GM06990	blood:	n/a	n/a
45	CTCF	chr22:32840209-32840410	Fibrobl	skin:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333
46	CTCF	chr22:32809880-32810030	GM12871	blood:	n/a	n/a
47	CTCF	chr22:32809880-32810030	HepG2	liver:	n/a	n/a
48	CTCF	chr22:32809820-32809970	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr22:32809842-32810000	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr22:32840144-32840451	HepG2	liver:	n/a	chr22:32840318-32840331 chr22:32840316-32840334 chr22:32840317-32840333

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32807996-32808046	ProgFib	skin:	n/a
2	chr22:32807996-32808046	ProgFib	skin:	n/a
3	chr22:32808786-32808836	HPAEpiC	pulmonary alveolar:	n/a
4	chr22:32810284-32810334	HCF	heart:	n/a
5	chr22:32810391-32810441	HRCEpiC	kidney:	n/a
6	chr22:32810391-32810441	GM06990	blood:	n/a
7	chr22:32810284-32810334	K562	blood:	n/a
8	chr22:32807996-32808046	HCM	heart:	n/a
9	chr22:32807996-32808046	SK-N-SH_RA	brain:	n/a
10	chr22:32807996-32808046	Hepatocyte	liver:	n/a
11	chr22:32808489-32808539	A549	lung:	n/a
12	chr22:32808171-32808221	T-47D	breast:	n/a
13	chr22:32810284-32810334	BE2_C	brain:	n/a
14	chr22:32810284-32810334	HRCEpiC	kidney:	n/a
15	chr22:32807488-32807538	GM19239	blood:	n/a
16	chr22:32807996-32808046	U87	brain:	n/a
17	chr22:32807488-32807538	HCF	heart:	n/a
18	chr22:32808177-32808227	BE2_C	brain:	n/a
19	chr22:32807879-32807929	GM12891	blood:	n/a
20	chr22:32807996-32808046	HEEpiC	esophagus:	n/a
21	chr22:32807879-32807929	GM12892	blood:	n/a
22	chr22:32808177-32808227	HEEpiC	esophagus:	n/a
23	chr22:32808171-32808221	ECC-1	luminal epithelium:	n/a
24	chr22:32808764-32808814	H1-hESC	embryonic stem cell:	embryo
25	chr22:32808489-32808539	NHBE	bronchial:	n/a
26	chr22:32807996-32808046	HNPCEpiC	eye:	n/a
27	chr22:32810284-32810334	CMK	blood:	n/a
28	chr22:32810284-32810334	PrEC	prostate:	n/a
29	chr22:32808171-32808221	HCPEpiC	choroid plexus:	n/a
30	chr22:32810391-32810441	RPTEC	kidney:	n/a
31	chr22:32807996-32808046	HUVEC	blood vessel:	n/a
32	chr22:32807996-32808046	HL-60	blood:	n/a
33	chr22:32808786-32808836	GM06990	blood:	n/a
34	chr22:32808171-32808221	HRCEpiC	kidney:	n/a
35	chr22:32808177-32808227	AoSMC	blood vessel:	n/a
36	chr22:32807996-32808046	HRE	kidney:	n/a
37	chr22:32807879-32807929	HMEC	breast:	n/a
38	chr22:32807996-32808046	NH-A	brain:	n/a
39	chr22:32808786-32808836	GM19239	blood:	n/a
40	chr22:32807996-32808046	IMR90	lung:	fetal
41	chr22:32807996-32808046	SKMC	muscle:	n/a
42	chr22:32807488-32807538	HCPEpiC	choroid plexus:	n/a
43	chr22:32808786-32808836	HRPEpiC	eye:	n/a
44	chr22:32808177-32808227	AG04450	lung:	fetal
45	chr22:32808177-32808227	BJ	skin:	n/a
46	chr22:32807879-32807929	IMR90	lung:	fetal
47	chr22:32807996-32808046	GM12878	blood:	n/a
48	chr22:32808489-32808539	IMR90	lung:	fetal
49	chr22:32810391-32810441	ECC-1	luminal epithelium:	n/a
50	chr22:32808764-32808814	HCF	heart:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32835432..32837325-chr22:32869547..32871123,2	MCF-7	breast:
2	chr22:32801191..32803610-chr22:32806296..32808272,2	K562	blood:
3	22:32334260-32338420..22:32809335-32812035	K562	blood:
4	22:32809335-32812035..22:32860159-32865649	H1-hESC	embryonic stem cell:	embryo
5	chr22:32810764..32811281-chr22:32831820..32832761,2	MCF-7	breast:
6	22:32053085-32061138..22:32809335-32812035	Hela-S3	cervix:
7	22:32764253-32784733..22:32827003-32830758	K562	blood:
8	chr22:32807562..32810232-chr22:32869269..32871220,2	K562	blood:
9	22:32809335-32812035..22:33452523-33459358	Hela-S3	cervix:
10	22:32292186-32294405..22:32809335-32812035	Hela-S3	cervix:
11	chr22:32774444..32775309-chr22:32839813..32840801,8	MCF-7	breast:
12	22:32264718-32278135..22:32819468-32826336	GM12878	blood:
13	22:32544939-32549151..22:32827003-32830758	Hela-S3	cervix:
14	22:31961151-31976153..22:32827003-32830758	K562	blood:
15	chr22:32807581..32809843-chr22:32816573..32819369,2	K562	blood:
16	chr22:32810764..32811281-chr22:32831820..32832761,2	MCF-7	breast:
17	chr22:32818703..32822540-chr22:32869209..32873188,4	K562	blood:
18	22:32827003-32830758..22:33262063-33266567	Hela-S3	cervix:
19	chr22:32806674..32809843-chr22:32815154..32819369,3	K562	blood:
20	22:31864703-31891033..22:32827003-32830758	K562	blood:
21	22:32827003-32830758..22:32860159-32865649	K562	blood:
22	22:32827003-32830758..22:33190123-33206921	K562	blood:
23	22:32477762-32487457..22:32809335-32812035	Hela-S3	cervix:
24	22:32827003-32830758..22:32868055-32872511	Hela-S3	cervix:
25	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:
26	chr22:32806622..32809672-chr22:32869373..32872144,4	MCF-7	breast:
27	chr22:32819717..32822540-chr22:32869209..32872621,3	K562	blood:
28	chr22:32806869..32809842-chr22:32816444..32820069,3	MCF-7	breast:
29	chr22:32806605..32809228-chr22:32839500..32841048,2	MCF-7	breast:
30	22:32809335-32812035..22:32872511-32874561	Hela-S3	cervix:
31	chr22:32809030..32810169-chr22:32839774..32840840,4	MCF-7	breast:
32	22:32750950-32761732..22:32827003-32830758	K562	blood:
33	chr22:32774655..32775289-chr22:32840154..32841027,2	MCF-7	breast:
34	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
35	22:32012966-32043914..22:32809335-32812035	Hela-S3	cervix:
36	chr22:32778843..32780459-chr22:32807463..32809458,2	K562	blood:
37	chr22:32809495..32810013-chr22:32840062..32840817,2	MCF-7	breast:
38	22:32477762-32487457..22:32827003-32830758	K562	blood:
39	chr22:32806637..32808324-chr22:32870497..32872790,2	MCF-7	breast:
40	chr22:32839780..32841895-chr22:32843055..32844709,2	MCF-7	breast:
41	chr22:32813930..32815721-chr22:32818437..32821408,3	K562	blood:
42	chr22:32840482..32843271-chr22:32863518..32866451,2	K562	blood:
43	22:32292186-32294405..22:32819468-32826336	GM12878	blood:
44	22:32740683-32750950..22:32827003-32830758	K562	blood:
45	chr22:32839780..32841895-chr22:32843055..32844709,2	MCF-7	breast:
46	chr22:32839660..32842099-chr22:32867948..32870781,2	MCF-7	breast:
47	chr22:32809030..32810169-chr22:32839774..32840840,4	MCF-7	breast:
48	22:32228866-32235273..22:32819468-32826336	GM12878	blood:
49	chr22:32813930..32815721-chr22:32818437..32821408,3	K562	blood:
50	chr22:32809495..32810013-chr22:32840062..32840817,2	MCF-7	breast:

No data

Variant related genes	Relation type
RTCB	TF binding region
RTCB	CpG island
ENSG00000230736	chromatin interactions
ENSG00000100220	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000199248	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000100170	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000252909	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000205856	chromatin interactions
ENSG00000100234	chromatin interactions
ENSG00000100150	chromatin interactions

Extended variants
information (count: 1319 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs715629	chr22:32806595-32806596	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191594448	chr22:32806630-32806631	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs530861108	chr22:32806665-32806666	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs553777503	chr22:32806678-32806679	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574024829	chr22:32806691-32806692	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536240208	chr22:32806708-32806709	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201582583	chr22:32806709-32806710	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs5844994	chr22:32806710-32806711	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs75600484	chr22:32806721-32806722	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371945336	chr22:32806739-32806740	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539022841	chr22:32806755-32806756	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs374323849	chr22:32806772-32806773	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556223029	chr22:32806781-32806782	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs182401604	chr22:32806802-32806803	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs544747186	chr22:32806856-32806857	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs565003341	chr22:32806857-32806858	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs572503236	chr22:32806863-32806864	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs541648438	chr22:32806883-32806884	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs370408573	chr22:32806885-32806886	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs561229622	chr22:32806893-32806894	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs76886071	chr22:32806910-32806911	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550080444	chr22:32806989-32806990	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs186672887	chr22:32807009-32807010	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs532546519	chr22:32807032-32807033	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs5994563	chr22:32807107-32807108	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150172194	chr22:32807133-32807134	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs533739173	chr22:32807156-32807157	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs35777669	chr22:32807240-32807241	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs544536317	chr22:32807257-32807258	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs183332545	chr22:32807260-32807261	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs541666059	chr22:32807267-32807268	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138130326	chr22:32807315-32807316	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556516043	chr22:32807335-32807336	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs576070451	chr22:32807357-32807358	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs9619262	chr22:32807375-32807376	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs548950120	chr22:32807385-32807386	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs572137596	chr22:32807388-32807389	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs541242480	chr22:32807391-32807392	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs377298163	chr22:32807433-32807434	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs554711541	chr22:32807435-32807436	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs149570773	chr22:32807457-32807458	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs543666802	chr22:32807461-32807462	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs563642069	chr22:32807470-32807471	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs189198911	chr22:32807472-32807473	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs546218094	chr22:32807505-32807506	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs144280090	chr22:32807522-32807523	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs568776648	chr22:32807622-32807623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs77840988	chr22:32807627-32807628	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs139192203	chr22:32807662-32807663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs35365486	chr22:32807671-32807672	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
3	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:32783200-32806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:32798000-32806800	Weak transcription	Psoas Muscle	Psoas
7	chr22:32802000-32806800	Genic enhancers	Primary B cells from cord blood	blood
8	chr22:32804200-32806600	Weak transcription	NHLF	lung
9	chr22:32804200-32806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:32804200-32806800	Weak transcription	Esophagus	oesophagus
11	chr22:32804200-32807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:32804600-32807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:32804800-32806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:32804800-32807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:32804800-32807000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr22:32805000-32806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:32805000-32806600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:32805000-32806600	Weak transcription	Brain Germinal Matrix	brain
20	chr22:32805000-32806600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr22:32805000-32806800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:32805000-32806800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:32805000-32806800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr22:32805000-32806800	Weak transcription	Aorta	Aorta
25	chr22:32805000-32806800	Weak transcription	Fetal Intestine Large	intestine
26	chr22:32805000-32806800	Weak transcription	Lung	lung
27	chr22:32805000-32806800	Weak transcription	HSMM	muscle
28	chr22:32805000-32806800	Weak transcription	NH-A	brain
29	chr22:32805000-32807000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr22:32805200-32806600	Enhancers	Liver	Liver
31	chr22:32805400-32806600	Enhancers	Brain Hippocampus Middle	brain
32	chr22:32805600-32806600	Genic enhancers	Fetal Brain Female	brain
33	chr22:32805600-32806800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr22:32805600-32807000	Enhancers	Stomach Mucosa	stomach
35	chr22:32806000-32806600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:32806000-32806600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:32806000-32806600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr22:32806000-32806600	Enhancers	Fetal Brain Male	brain
39	chr22:32806000-32806600	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr22:32806000-32806600	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr22:32806000-32806800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:32806000-32806800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr22:32806000-32806800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr22:32806000-32806800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr22:32806000-32806800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:32806000-32806800	Enhancers	Right Ventricle	heart
47	chr22:32806000-32806800	Enhancers	Hela-S3	cervix
48	chr22:32806000-32807000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:32806000-32807000	Enhancers	Primary B cells from peripheral blood	blood
50	chr22:32806000-32807000	Enhancers	Primary T cells fromperipheralblood	blood

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