Variant report

Variant	esv3400270
Chromosome Location	chr11:58345401-58348249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1248)
CpG islands
(count:978)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1248 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:58346988-58347660	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:58346978-58347892	K562	blood:	n/a	n/a
3	ARID3A	chr11:58344557-58346338	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:58344604-58346214	K562	blood:	n/a	n/a
5	ATF1	chr11:58345105-58346583	K562	blood:	n/a	n/a
6	ATF2	chr11:58344499-58346651	GM12878	blood:	n/a	n/a
7	ATF2	chr11:58347715-58348202	GM12878	blood:	n/a	n/a
8	ATF2	chr11:58344664-58346570	GM12878	blood:	n/a	n/a
9	ATF2	chr11:58346951-58347705	GM12878	blood:	n/a	n/a
10	ATF2	chr11:58346858-58347654	GM12878	blood:	n/a	n/a
11	ATF2	chr11:58345615-58346559	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr11:58347706-58348152	GM12878	blood:	n/a	n/a
13	ATF3	chr11:58346900-58347469	A549	lung:	n/a	n/a
14	ATF3	chr11:58345084-58346020	K562	blood:	n/a	n/a
15	ATF3	chr11:58347016-58347452	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr11:58346996-58347489	HepG2	liver:	n/a	n/a
17	ATF3	chr11:58345599-58346375	A549	lung:	n/a	n/a
18	ATF3	chr11:58346985-58347312	HepG2	liver:	n/a	n/a
19	ATF3	chr11:58345348-58345903	K562	blood:	n/a	n/a
20	ATF3	chr11:58346991-58347293	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr11:58347086-58347337	GM12878	blood:	n/a	n/a
22	ATF3	chr11:58346929-58347330	K562	blood:	n/a	n/a
23	ATF3	chr11:58346985-58347545	K562	blood:	n/a	n/a
24	ATF3	chr11:58346926-58347392	GM12878	blood:	n/a	n/a
25	ATF3	chr11:58346944-58347435	A549	lung:	n/a	n/a
26	BACH1	chr11:58345738-58346211	K562	blood:	n/a	n/a
27	BACH1	chr11:58345634-58346589	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr11:58347727-58348174	GM12878	blood:	n/a	n/a
29	BATF	chr11:58345351-58345618	GM12878	blood:	n/a	n/a
30	BATF	chr11:58347037-58347408	GM12878	blood:	n/a	n/a
31	BATF	chr11:58344885-58345851	GM12878	blood:	n/a	chr11:58345784-58345794
32	BATF	chr11:58345625-58345921	GM12878	blood:	n/a	chr11:58345784-58345794
33	BCL11A	chr11:58344956-58345711	GM12878	blood:	n/a	n/a
34	BCL11A	chr11:58344936-58345664	GM12878	blood:	n/a	n/a
35	BCL3	chr11:58345108-58346303	A549	lung:	n/a	n/a
36	BCL3	chr11:58346856-58347372	GM12878	blood:	n/a	n/a
37	BCL3	chr11:58344909-58345706	GM12878	blood:	n/a	n/a
38	BCL3	chr11:58346831-58347524	A549	lung:	n/a	n/a
39	BCL3	chr11:58345212-58346505	A549	lung:	n/a	n/a
40	BCLAF1	chr11:58344613-58346485	GM12878	blood:	n/a	n/a
41	BCLAF1	chr11:58346888-58347610	GM12878	blood:	n/a	n/a
42	BCLAF1	chr11:58344828-58346541	GM12878	blood:	n/a	n/a
43	BCLAF1	chr11:58346788-58347621	GM12878	blood:	n/a	n/a
44	BHLHE40	chr11:58345152-58346455	HepG2	liver:	n/a	n/a
45	BHLHE40	chr11:58347017-58347375	A549	lung:	n/a	n/a
46	BHLHE40	chr11:58345274-58345881	A549	lung:	n/a	n/a
47	BHLHE40	chr11:58344641-58346551	K562	blood:	n/a	n/a
48	BHLHE40	chr11:58344571-58347543	GM12878	blood:	n/a	n/a
49	BHLHE40	chr11:58346662-58347428	HepG2	liver:	n/a	n/a
50	BHLHE40	chr11:58346808-58347554	K562	blood:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58345705-58345755	HRPEpiC	eye:	n/a
2	chr11:58345687-58345737	HCT-116	colon:	n/a
3	chr11:58345705-58345755	HRPEpiC	eye:	n/a
4	chr11:58345687-58345737	HCT-116	colon:	n/a
5	chr11:58347526-58347576	U87	brain:	n/a
6	chr11:58345702-58345752	K562	blood:	n/a
7	chr11:58347526-58347576	HEEpiC	esophagus:	n/a
8	chr11:58346138-58346188	NT2-D1	testis:	n/a
9	chr11:58346138-58346188	Hepatocyte	liver:	n/a
10	chr11:58346540-58346590	BJ	skin:	n/a
11	chr11:58346531-58346581	HRE	kidney:	n/a
12	chr11:58345702-58345752	ovcar-3	ovarian:	n/a
13	chr11:58345608-58345658	HRE	kidney:	n/a
14	chr11:58346542-58346592	PANC-1	pancreas:	n/a
15	chr11:58346531-58346581	HNPCEpiC	eye:	n/a
16	chr11:58346138-58346188	HEK293	kidney:	embryo
17	chr11:58345702-58345752	A549	lung:	n/a
18	chr11:58345695-58345745	IMR90	lung:	fetal
19	chr11:58346524-58346574	GM12891	blood:	n/a
20	chr11:58347178-58347228	HEEpiC	esophagus:	n/a
21	chr11:58346524-58346574	HRCEpiC	kidney:	n/a
22	chr11:58345705-58345755	HepG2	liver:	n/a
23	chr11:58345608-58345658	U87	brain:	n/a
24	chr11:58345705-58345755	T-47D	breast:	n/a
25	chr11:58347178-58347228	ECC-1	luminal epithelium:	n/a
26	chr11:58345695-58345745	ovcar-3	ovarian:	n/a
27	chr11:58347526-58347576	BJ	skin:	n/a
28	chr11:58346531-58346581	GM19239	blood:	n/a
29	chr11:58347526-58347576	SK-N-SH_RA	brain:	n/a
30	chr11:58346524-58346574	HCM	heart:	n/a
31	chr11:58346138-58346188	HIPEpiC	eye:	n/a
32	chr11:58345717-58345767	HAEpiC	amniotic membrane:	n/a
33	chr11:58346542-58346592	AoSMC	blood vessel:	n/a
34	chr11:58345523-58345573	Jurkat	blood:	n/a
35	chr11:58346524-58346574	GM12878	blood:	n/a
36	chr11:58345717-58345767	SKMC	muscle:	n/a
37	chr11:58345705-58345755	Caco-2	colon:	n/a
38	chr11:58346540-58346590	PFSK-1	brain:	n/a
39	chr11:58347178-58347228	Caco-2	colon:	n/a
40	chr11:58345702-58345752	HMEC	breast:	n/a
41	chr11:58345702-58345752	SK-N-MC	brain:	n/a
42	chr11:58346524-58346574	BE2_C	brain:	n/a
43	chr11:58346524-58346574	HIPEpiC	eye:	n/a
44	chr11:58345687-58345737	GM12891	blood:	n/a
45	chr11:58345687-58345737	Caco-2	colon:	n/a
46	chr11:58347178-58347228	Hela-S3	cervix:	n/a
47	chr11:58347178-58347228	MCF-7	breast:	n/a
48	chr11:58345608-58345658	ECC-1	luminal epithelium:	n/a
49	chr11:58347088-58347138	PANC-1	pancreas:	n/a
50	chr11:58345695-58345745	HPAEpiC	pulmonary alveolar:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:
2	chr1:145382494..145383212-chr11:58345288..58345852,2	Hela-S3	cervix:
3	chr11:57433251..57435131-chr11:58346916..58348765,2	K562	blood:
4	chr11:58345634..58347329-chr11:58913905..58915748,2	MCF-7	breast:
5	chr1:37939974..37940671-chr11:58346171..58346779,2	Hela-S3	cervix:
6	chr11:58344715..58345686-chr12:123011120..123011802,2	Hela-S3	cervix:
7	chr11:58346682..58347411-chr8:128233331..128233832,2	Hela-S3	cervix:
8	chr11:58345286..58347963-chr11:58389614..58393452,3	MCF-7	breast:
9	chr11:58345920..58346638-chr17:26988735..26989426,3	Hela-S3	cervix:
10	chr11:58345815..58346705-chr19:45971168..45971770,2	Hela-S3	cervix:
11	chr11:58347130..58349444-chr11:58352908..58354763,3	MCF-7	breast:
12	chr11:57433251..57437103-chr11:58344962..58348416,5	K562	blood:
13	chr11:58345021..58345588-chr3:129034227..129035062,2	Hela-S3	cervix:
14	chr11:58345131..58348848-chr11:58387112..58390850,4	K562	blood:
15	chr11:58346671..58347279-chr11:58397113..58398063,2	MCF-7	breast:
16	chr11:58343237..58345881-chr11:58936566..58939542,2	K562	blood:
17	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
18	chr11:57423476..57425127-chr11:58344978..58347964,2	K562	blood:
19	chr11:58344628..58346130-chr11:58388841..58391574,2	MCF-7	breast:
20	chr11:58345242..58347401-chr14:50233763..50235368,2	MCF-7	breast:
21	chr11:58346682..58349272-chr11:58349301..58352571,4	MCF-7	breast:
22	chr11:58344606..58345552-chr11:58442971..58443635,2	K562	blood:
23	chr11:57434798..57437115-chr11:58345701..58348083,4	MCF-7	breast:
24	chr11:58343669..58348848-chr11:58387112..58391418,8	K562	blood:
25	chr11:58341513..58344415-chr11:58344785..58347272,2	MCF-7	breast:
26	chr11:58346677..58347271-chr17:41438125..41438855,2	Hela-S3	cervix:
27	chr1:156630989..156631533-chr11:58345269..58345934,2	HCT-116	colon:
28	chr1:8762975..8763667-chr11:58346673..58347454,2	NB4	blood:

No data

Variant related genes	Relation type
ZFP91-CNTF	TF binding region
ZFP91	TF binding region
LPXN	TF binding region
ZFP91-CNTF	CpG island
ZFP91	CpG island
LPXN	CpG island
ENSG00000111011	chromatin interactions
ENSG00000110042	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000172409	chromatin interactions
ENSG00000242689	chromatin interactions
ENSG00000163874	chromatin interactions
ENSG00000125740	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000206417	chromatin interactions
ENSG00000173011	chromatin interactions
ENSG00000132581	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000142599	chromatin interactions
ENSG00000233621	chromatin interactions
ENSG00000173013	chromatin interactions
ENSG00000166801	chromatin interactions
ENSG00000109111	chromatin interactions
ENSG00000165516	chromatin interactions
ENSG00000229953	chromatin interactions
ENSG00000134809	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555851774	chr11:58345402-58345403	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs573761652	chr11:58345425-58345426	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs544231515	chr11:58345459-58345460	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs562522192	chr11:58345476-58345477	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs374293835	chr11:58345484-58345485	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs117724213	chr11:58345487-58345488	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs560586679	chr11:58345492-58345493	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs527891737	chr11:58345523-58345524	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs549285953	chr11:58345588-58345589	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs567372877	chr11:58345650-58345651	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs372732111	chr11:58345672-58345673	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs2510556	chr11:58345686-58345687	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549847205	chr11:58345695-58345696	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs192092111	chr11:58345740-58345741	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs183462701	chr11:58345743-58345744	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs59856964	chr11:58345749-58345750	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565808171	chr11:58345764-58345765	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs185736567	chr11:58345803-58345804	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs554451208	chr11:58345818-58345819	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs573826313	chr11:58345821-58345822	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs190198688	chr11:58345834-58345835	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs556179204	chr11:58345839-58345840	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs577624219	chr11:58345840-58345841	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs546911669	chr11:58345841-58345842	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs549889729	chr11:58345857-58345858	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs3834911	chr11:58345885-58345886	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs397840996	chr11:58345886-58345887	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs142922608	chr11:58345929-58345930	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs375092755	chr11:58345956-58345957	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs560865262	chr11:58345974-58345975	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs572618483	chr11:58345990-58345991	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs543241982	chr11:58346025-58346026	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs561461291	chr11:58346026-58346027	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs531472250	chr11:58346052-58346053	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs182461616	chr11:58346071-58346072	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs564923771	chr11:58346076-58346077	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs532167368	chr11:58346112-58346113	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs568930908	chr11:58346114-58346115	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs186784762	chr11:58346118-58346119	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs565998729	chr11:58346139-58346140	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs7124107	chr11:58346153-58346154	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548414112	chr11:58346195-58346196	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs192279387	chr11:58346206-58346207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs147085583	chr11:58346218-58346219	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs545620982	chr11:58346219-58346220	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs536809715	chr11:58346240-58346241	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs115987045	chr11:58346303-58346304	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs561791109	chr11:58346322-58346323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs577690142	chr11:58346341-58346342	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs539040708	chr11:58346372-58346373	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58342200-58346000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:58343800-58347800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:58344000-58347800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:58344200-58345600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr11:58344200-58345600	Flanking Active TSS	NH-A	brain
6	chr11:58344200-58346000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:58344200-58346400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:58344200-58348200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:58344400-58345600	Flanking Active TSS	HUVEC	blood vessel
10	chr11:58344400-58345800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:58344400-58346400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:58344400-58347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:58344400-58347800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:58344400-58347800	Active TSS	Aorta	Aorta
15	chr11:58344400-58348000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:58344400-58348000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:58344400-58348000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:58344400-58348000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:58344400-58348200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:58344400-58348400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:58344400-58349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:58344400-58349400	Active TSS	K562	blood
23	chr11:58344600-58345600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:58344600-58346000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:58344600-58346600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:58344600-58347200	Active TSS	Rectal Smooth Muscle	rectum
27	chr11:58344600-58347800	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:58344600-58348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:58344600-58348000	Active TSS	Brain Angular Gyrus	brain
30	chr11:58344600-58348000	Active TSS	Colonic Mucosa	Colon
31	chr11:58344600-58348000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:58344600-58348000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:58344600-58348000	Active TSS	HSMM	muscle
34	chr11:58344600-58348000	Active TSS	NHDF-Ad	bronchial
35	chr11:58344600-58348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr11:58344600-58348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:58344600-58348200	Active TSS	Fetal Intestine Small	intestine
38	chr11:58344600-58348400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:58344600-58348400	Active TSS	NHLF	lung
40	chr11:58344600-58348600	Active TSS	Psoas Muscle	Psoas
41	chr11:58344600-58348800	Active TSS	GM12878-XiMat	blood
42	chr11:58344600-58349000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr11:58344600-58349000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:58344600-58350000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:58344800-58345600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr11:58344800-58345600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:58344800-58345600	Active TSS	Right Atrium	heart
48	chr11:58344800-58347400	ZNF genes & repeats	Fetal Brain Male	brain
49	chr11:58344800-58347600	Active TSS	Left Ventricle	heart
50	chr11:58344800-58347600	Active TSS	Placenta Amnion	Placenta Amnion

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