Variant report

Variant	nsv615742
Chromosome Location	chr9:136807770-136835343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:934)
CpG islands
(count:612)
Chromatin interactive
region (count:75)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:136822240-136822949	GM12878	blood:	n/a	n/a
2	ATF2	chr9:136810254-136811307	GM12878	blood:	n/a	n/a
3	ATF2	chr9:136822254-136822627	GM12878	blood:	n/a	n/a
4	ATF2	chr9:136820940-136821218	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr9:136810376-136811194	GM12878	blood:	n/a	n/a
6	ATF2	chr9:136818883-136820547	GM12878	blood:	n/a	n/a
7	ATF2	chr9:136826454-136826880	GM12878	blood:	n/a	n/a
8	ATF2	chr9:136823833-136824508	GM12878	blood:	n/a	n/a
9	ATF2	chr9:136818885-136819544	GM12878	blood:	n/a	n/a
10	BACH1	chr9:136820946-136821379	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr9:136819044-136819433	GM12878	blood:	n/a	chr9:136819325-136819334
12	BATF	chr9:136810461-136810801	GM12878	blood:	n/a	n/a
13	BATF	chr9:136822410-136822762	GM12878	blood:	n/a	n/a
14	BATF	chr9:136819003-136819514	GM12878	blood:	n/a	chr9:136819325-136819334
15	BATF	chr9:136810425-136810711	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:136810952-136811324	GM12878	blood:	n/a	chr9:136811152-136811161
17	BCL11A	chr9:136818998-136819462	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:136810313-136810835	GM12878	blood:	n/a	chr9:136810341-136810350 chr9:136810796-136810805 chr9:136810703-136810712
19	BCL11A	chr9:136810392-136810790	GM12878	blood:	n/a	chr9:136810703-136810712
20	BCL11A	chr9:136819888-136820325	GM12878	blood:	n/a	n/a
21	BCL11A	chr9:136811032-136811280	GM12878	blood:	n/a	chr9:136811152-136811161
22	BCL3	chr9:136818864-136819573	GM12878	blood:	n/a	n/a
23	BCL3	chr9:136810462-136811268	GM12878	blood:	n/a	chr9:136810796-136810805 chr9:136811152-136811161 chr9:136810703-136810712
24	BCL3	chr9:136810375-136810868	GM12878	blood:	n/a	chr9:136810796-136810805 chr9:136810703-136810712
25	BCL3	chr9:136822451-136822745	GM12878	blood:	n/a	chr9:136822655-136822668
26	BCLAF1	chr9:136810347-136811299	GM12878	blood:	n/a	chr9:136810796-136810805 chr9:136811152-136811161 chr9:136810703-136810712
27	BCLAF1	chr9:136810336-136811225	GM12878	blood:	n/a	chr9:136810341-136810350 chr9:136810796-136810805 chr9:136811152-136811161 chr9:136810703-136810712
28	BCLAF1	chr9:136823842-136824378	GM12878	blood:	n/a	chr9:136824117-136824126
29	BCLAF1	chr9:136821634-136823012	GM12878	blood:	n/a	chr9:136822655-136822668
30	BCLAF1	chr9:136826435-136826988	GM12878	blood:	n/a	n/a
31	BCLAF1	chr9:136818871-136819616	GM12878	blood:	n/a	n/a
32	BCLAF1	chr9:136821802-136822697	GM12878	blood:	n/a	chr9:136822655-136822668
33	BHLHE40	chr9:136826670-136826928	GM12878	blood:	n/a	n/a
34	BHLHE40	chr9:136807549-136807775	K562	blood:	n/a	n/a
35	BHLHE40	chr9:136810343-136811449	GM12878	blood:	n/a	n/a
36	BHLHE40	chr9:136818920-136819589	GM12878	blood:	n/a	chr9:136819238-136819254
37	BHLHE40	chr9:136820942-136821188	GM12878	blood:	n/a	n/a
38	BHLHE40	chr9:136823941-136824481	GM12878	blood:	n/a	chr9:136824151-136824167
39	BRCA1	chr9:136819209-136819400	GM12878	blood:	n/a	n/a
40	CEBPB	chr9:136832108-136832562	MCF-7	breast:	n/a	n/a
41	CEBPB	chr9:136818458-136818468	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:136810339-136811641	GM12878	blood:	n/a	n/a
43	CEBPB	chr9:136818942-136819578	GM12878	blood:	n/a	n/a
44	CEBPB	chr9:136832035-136832527	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr9:136819849-136820502	GM12878	blood:	n/a	n/a
46	CEBPB	chr9:136819151-136819384	GM12878	blood:	n/a	n/a
47	CHD1	chr9:136826645-136826883	GM12878	blood:	n/a	n/a
48	CHD1	chr9:136819536-136820522	GM12878	blood:	n/a	chr9:136819686-136819696
49	CHD1	chr9:136820933-136821816	GM12878	blood:	n/a	n/a
50	CHD1	chr9:136819174-136819215	GM12878	blood:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136809652-136809702	HRE	kidney:	n/a
2	chr9:136809652-136809702	AG04450	lung:	fetal
3	chr9:136809652-136809702	HRE	kidney:	n/a
4	chr9:136809652-136809702	AG04450	lung:	fetal
5	chr9:136825187-136825237	LNCaP	prostate:	n/a
6	chr9:136822302-136822352	GM19239	blood:	n/a
7	chr9:136833899-136833949	U87	brain:	n/a
8	chr9:136833899-136833949	HCPEpiC	choroid plexus:	n/a
9	chr9:136833401-136833451	HRE	kidney:	n/a
10	chr9:136834256-136834306	CMK	blood:	n/a
11	chr9:136825187-136825237	HCT-116	colon:	n/a
12	chr9:136816077-136816127	HCT-116	colon:	n/a
13	chr9:136825187-136825237	HepG2	liver:	n/a
14	chr9:136819477-136819527	A549	lung:	n/a
15	chr9:136833899-136833949	ECC-1	luminal epithelium:	n/a
16	chr9:136834256-136834306	AG04450	lung:	fetal
17	chr9:136833899-136833949	GM12891	blood:	n/a
18	chr9:136834256-136834306	SKMC	muscle:	n/a
19	chr9:136822302-136822352	NHBE	bronchial:	n/a
20	chr9:136814406-136814456	Hepatocyte	liver:	n/a
21	chr9:136809652-136809702	SAEC	small airway:	n/a
22	chr9:136816077-136816127	A549	lung:	n/a
23	chr9:136833401-136833451	AG04449	skin:	fetal
24	chr9:136814406-136814456	NH-A	brain:	n/a
25	chr9:136834256-136834306	GM12878	blood:	n/a
26	chr9:136833899-136833949	NHBE	bronchial:	n/a
27	chr9:136833401-136833451	HRCEpiC	kidney:	n/a
28	chr9:136831506-136831556	HL-60	blood:	n/a
29	chr9:136819477-136819527	HRE	kidney:	n/a
30	chr9:136833899-136833949	GM12892	blood:	n/a
31	chr9:136834256-136834306	HUVEC	blood vessel:	n/a
32	chr9:136814406-136814456	T-47D	breast:	n/a
33	chr9:136831506-136831556	IMR90	lung:	fetal
34	chr9:136833899-136833949	NT2-D1	testis:	n/a
35	chr9:136825187-136825237	GM06990	blood:	n/a
36	chr9:136822302-136822352	HNPCEpiC	eye:	n/a
37	chr9:136825187-136825237	HRE	kidney:	n/a
38	chr9:136819477-136819527	HCT-116	colon:	n/a
39	chr9:136816077-136816127	HCPEpiC	choroid plexus:	n/a
40	chr9:136819477-136819527	MCF-7	breast:	n/a
41	chr9:136809652-136809702	GM12892	blood:	n/a
42	chr9:136831506-136831556	NH-A	brain:	n/a
43	chr9:136831506-136831556	Hela-S3	cervix:	n/a
44	chr9:136831506-136831556	HIPEpiC	eye:	n/a
45	chr9:136833899-136833949	BE2_C	brain:	n/a
46	chr9:136822302-136822352	HEK293	kidney:	embryo
47	chr9:136814406-136814456	U87	brain:	n/a
48	chr9:136816077-136816127	K562	blood:	n/a
49	chr9:136814406-136814456	BJ	skin:	n/a
50	chr9:136809652-136809702	PrEC	prostate:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:136799983..136801681-chr9:136809502..136811827,2	MCF-7	breast:
2	chr9:136802379..136805051-chr9:136807090..136809194,2	K562	blood:
3	chr9:136819142..136821965-chr9:136822895..136826242,3	K562	blood:
4	chr9:136806554..136808974-chr9:136811939..136813697,2	MCF-7	breast:
5	chr9:136747124..136749714-chr9:136809806..136812182,3	MCF-7	breast:
6	chr9:136813249..136815512-chr9:136856138..136859094,3	MCF-7	breast:
7	chr9:136810410..136813300-chr9:136824316..136826699,2	MCF-7	breast:
8	chr9:136819142..136821965-chr9:136822895..136826242,3	K562	blood:
9	chr9:136821303..136824220-chr9:136826571..136828241,2	MCF-7	breast:
10	chr9:136819042..136820561-chr9:136859120..136860817,2	MCF-7	breast:
11	chr9:136823911..136827460-chr9:136829913..136836528,5	MCF-7	breast:
12	chr9:136734394..136737190-chr9:136823584..136826132,2	MCF-7	breast:
13	chr9:136810410..136813300-chr9:136824316..136826699,2	MCF-7	breast:
14	chr9:136825997..136828565-chr9:136829281..136832020,2	MCF-7	breast:
15	chr1:151511400..151514306-chr9:136807896..136809697,2	MCF-7	breast:
16	chr9:136809945..136812192-chr9:136855956..136857665,2	MCF-7	breast:
17	chr9:136813894..136816969-chr9:136817141..136821146,4	MCF-7	breast:
18	chr9:136776206..136778622-chr9:136832322..136834607,2	MCF-7	breast:
19	chr9:136819196..136821510-chr9:136837894..136840389,2	K562	blood:
20	chr9:136737400..136743457-chr9:136819359..136829756,12	MCF-7	breast:
21	chr9:136821904..136824368-chr9:136852633..136855112,2	MCF-7	breast:
22	chr9:136821303..136824220-chr9:136826571..136828241,2	MCF-7	breast:
23	chr9:136813894..136816969-chr9:136817141..136821146,4	MCF-7	breast:
24	chr9:136808878..136810435-chr9:136819072..136822048,2	K562	blood:
25	chr9:136647018..136648853-chr9:136824302..136826935,2	MCF-7	breast:
26	chr9:136806554..136808974-chr9:136811939..136813697,2	MCF-7	breast:
27	chr9:136813385..136817177-chr9:136818574..136821004,3	MCF-7	breast:
28	chr9:136815020..136816601-chr9:136860068..136862429,2	MCF-7	breast:
29	chr9:136809153..136811030-chr9:136812692..136814573,2	MCF-7	breast:
30	chr9:136834881..136836986-chr9:136842097..136843877,2	MCF-7	breast:
31	chr9:136809714..136811790-chr9:136818542..136820175,2	MCF-7	breast:
32	chr9:136813341..136815906-chr9:136834550..136837034,2	MCF-7	breast:
33	chr9:136818593..136821583-chr9:136825689..136827854,2	MCF-7	breast:
34	chr9:136828885..136832520-chr9:136855024..136858156,4	MCF-7	breast:
35	chr9:136813385..136817177-chr9:136818574..136821004,3	MCF-7	breast:
36	chr9:136814134..136815760-chr9:136832244..136834207,2	MCF-7	breast:
37	chr9:136737420..136739354-chr9:136812499..136814864,2	MCF-7	breast:
38	chr9:136830027..136831727-chr9:136833822..136836269,2	MCF-7	breast:
39	chr9:136810315..136812430-chr9:136853875..136857440,3	MCF-7	breast:
40	chr9:136824147..136826582-chr9:136846037..136848091,2	MCF-7	breast:
41	chr9:136809153..136811030-chr9:136812692..136814573,2	MCF-7	breast:
42	chr9:136700063..136700864-chr9:136825023..136825742,2	MCF-7	breast:
43	chr9:136815263..136820961-chr9:136821414..136825553,6	MCF-7	breast:
44	chr9:136818593..136821583-chr9:136825689..136827854,2	MCF-7	breast:
45	chr9:136808221..136810435-chr9:136819072..136822048,3	K562	blood:
46	chr9:136779162..136780728-chr9:136807487..136809424,2	MCF-7	breast:
47	chr9:136824341..136826018-chr9:136827360..136829019,2	MCF-7	breast:
48	chr9:136809714..136811790-chr9:136818542..136820175,2	MCF-7	breast:
49	chr9:136657372..136661309-chr9:136835277..136837863,3	MCF-7	breast:
50	chr9:136738620..136740987-chr9:136829938..136833023,3	MCF-7	breast:

No data

Variant related genes	Relation type
VAV2	TF binding region
VAV2	CpG island
ENSG00000160293	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000232536	chromatin interactions

Extended variants
information (count: 1344 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1344 , 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	rs2519109	chr9:136807770-136807771	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573759012	chr9:136807792-136807793	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561340048	chr9:136807793-136807794	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376497206	chr9:136807835-136807836	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375618997	chr9:136807840-136807841	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545385904	chr9:136807853-136807854	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs61541299	chr9:136807874-136807875	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575768244	chr9:136807876-136807877	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543180923	chr9:136807886-136807887	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565162432	chr9:136807887-136807888	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56766962	chr9:136807888-136807889	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546637827	chr9:136807894-136807895	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564942406	chr9:136807902-136807903	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs183070541	chr9:136807927-136807928	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs2789851	chr9:136807928-136807929	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569905055	chr9:136807955-136807956	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs187494485	chr9:136808018-136808019	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs549185002	chr9:136808031-136808032	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs567410370	chr9:136808032-136808033	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs71505241	chr9:136808052-136808053	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs374658314	chr9:136808053-136808054	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs150466377	chr9:136808058-136808059	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs577580792	chr9:136808068-136808069	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs368945419	chr9:136808084-136808085	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs116980334	chr9:136808089-136808090	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs557394811	chr9:136808125-136808126	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs183978154	chr9:136808143-136808144	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs372718108	chr9:136808175-136808176	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs187722004	chr9:136808176-136808177	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs377486732	chr9:136808186-136808187	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs192752950	chr9:136808196-136808197	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs542891804	chr9:136808228-136808229	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs57099166	chr9:136808234-136808235	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs184178568	chr9:136808243-136808244	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs551395685	chr9:136808256-136808257	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs187018206	chr9:136808257-136808258	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs532424893	chr9:136808263-136808264	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs550930204	chr9:136808271-136808272	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs563470474	chr9:136808280-136808281	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs191507247	chr9:136808304-136808305	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs549250522	chr9:136808337-136808338	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs567478109	chr9:136808338-136808339	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs112256286	chr9:136808341-136808342	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs546739833	chr9:136808374-136808375	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs60239881	chr9:136808387-136808388	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs739449	chr9:136808390-136808391	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556905543	chr9:136808397-136808398	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs377666905	chr9:136808400-136808401	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs144127241	chr9:136808405-136808406	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs536552231	chr9:136808425-136808426	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
2	chr9:136782000-136809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:136784000-136819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:136795600-136808600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:136797800-136811000	Weak transcription	A549	lung
6	chr9:136801000-136815400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:136801200-136808200	Weak transcription	Esophagus	oesophagus
8	chr9:136801200-136815600	Weak transcription	Right Atrium	heart
9	chr9:136801200-136815800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:136801200-136820200	Weak transcription	Left Ventricle	heart
11	chr9:136801400-136809200	Weak transcription	HUVEC	blood vessel
12	chr9:136801400-136809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:136801400-136810200	Weak transcription	Placenta	Placenta
14	chr9:136801400-136821200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:136802000-136807800	Weak transcription	Small Intestine	intestine
16	chr9:136802000-136815800	Weak transcription	Colonic Mucosa	Colon
17	chr9:136802200-136815800	Strong transcription	Fetal Intestine Small	intestine
18	chr9:136802600-136810200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:136802800-136816200	Weak transcription	Fetal Kidney	kidney
20	chr9:136803000-136813000	Weak transcription	Fetal Lung	lung
21	chr9:136803000-136815200	Weak transcription	HSMMtube	muscle
22	chr9:136803200-136807800	Weak transcription	Fetal Brain Female	brain
23	chr9:136803200-136811200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:136803200-136821200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:136803400-136808600	Weak transcription	NH-A	brain
26	chr9:136803400-136809400	Weak transcription	HSMM	muscle
27	chr9:136803400-136809600	Weak transcription	NHLF	lung
28	chr9:136803400-136811000	Weak transcription	Hela-S3	cervix
29	chr9:136803600-136821000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:136804000-136809200	Weak transcription	NHEK	skin
31	chr9:136804200-136807800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:136804200-136807800	Weak transcription	Spleen	Spleen
33	chr9:136804200-136809200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:136804200-136810200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr9:136804200-136810200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:136804200-136810400	Weak transcription	Adipose Nuclei	Adipose
37	chr9:136804200-136813400	Weak transcription	Gastric	stomach
38	chr9:136804200-136815400	Weak transcription	Ovary	ovary
39	chr9:136804200-136815400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:136804200-136819800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr9:136804200-136820200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:136804200-136821000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:136804200-136821200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr9:136804400-136807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:136804400-136808400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:136804400-136808800	Weak transcription	HMEC	breast
47	chr9:136804400-136809400	Weak transcription	Osteobl	bone
48	chr9:136804400-136809600	Weak transcription	GM12878-XiMat	blood
49	chr9:136804400-136810400	Weak transcription	Liver	Liver
50	chr9:136804400-136810400	Weak transcription	Monocytes-CD14+_RO01746	blood

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