Variant report

Variant	nsv455889
Chromosome Location	chr13:53419139-53466127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1347)
CpG islands
(count:2322)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr13:53425734-53426161	GM12878	blood:	n/a	n/a
2	ATF2	chr13:53424437-53425019	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr13:53454338-53454915	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr13:53425560-53426235	GM12878	blood:	n/a	n/a
5	ATF2	chr13:53424381-53425155	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr13:53425688-53426085	H1-hESC	embryonic stem cell:	n/a	chr13:53425990-53425999
7	ATF3	chr13:53425821-53426103	GM12878	blood:	n/a	chr13:53425990-53425999
8	ATF3	chr13:53425917-53426113	GM12878	blood:	n/a	chr13:53425990-53425999
9	BACH1	chr13:53422901-53423101	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr13:53420331-53420615	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr13:53421041-53421373	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr13:53424252-53426155	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr13:53423843-53424017	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr13:53425616-53426085	GM12878	blood:	n/a	n/a
15	BCL11A	chr13:53425758-53426141	GM12878	blood:	n/a	n/a
16	BCL11A	chr13:53454440-53454629	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr13:53425633-53426056	GM12878	blood:	n/a	n/a
18	BCLAF1	chr13:53425566-53426200	GM12878	blood:	n/a	n/a
19	BCLAF1	chr13:53424824-53425198	GM12878	blood:	n/a	n/a
20	BHLHE40	chr13:53425784-53426159	HepG2	liver:	n/a	chr13:53425984-53426005 chr13:53425990-53425999 chr13:53425989-53425998 chr13:53425990-53425999 chr13:53425988-53426001
21	BHLHE40	chr13:53425833-53426006	K562	blood:	n/a	chr13:53425984-53426005 chr13:53425990-53425999 chr13:53425989-53425998 chr13:53425990-53425999 chr13:53425988-53426001
22	BHLHE40	chr13:53425592-53426437	GM12878	blood:	n/a	chr13:53425984-53426005 chr13:53425715-53425731 chr13:53425990-53425999 chr13:53425989-53425998 chr13:53425990-53425999 chr13:53425988-53426001
23	BRCA1	chr13:53421122-53421430	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr13:53425617-53426123	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr13:53425728-53426190	MCF-7	breast:	n/a	n/a
26	CEBPB	chr13:53422185-53422650	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr13:53454249-53454782	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr13:53440794-53441010	HepG2	liver:	n/a	chr13:53440867-53440878
29	CEBPB	chr13:53421091-53421371	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr13:53425646-53426255	GM12878	blood:	n/a	n/a
31	CEBPB	chr13:53424622-53425041	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr13:53425766-53426130	HepG2	liver:	n/a	n/a
33	CEBPB	chr13:53425686-53426078	MCF-7	breast:	n/a	n/a
34	CEBPB	chr13:53420385-53420638	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr13:53420244-53420444	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr13:53424830-53426233	H1-hESC	embryonic stem cell:	n/a	chr13:53425351-53425361
37	CHD1	chr13:53425651-53425858	GM12878	blood:	n/a	n/a
38	CHD2	chr13:53420283-53420746	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr13:53424904-53424918	HepG2	liver:	n/a	n/a
40	CHD2	chr13:53420985-53421432	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr13:53424431-53426080	H1-hESC	embryonic stem cell:	n/a	chr13:53425351-53425361
42	CHD2	chr13:53425807-53426117	GM12878	blood:	n/a	n/a
43	CHD2	chr13:53424889-53425073	GM12878	blood:	n/a	n/a
44	CHD2	chr13:53422642-53423065	H1-hESC	embryonic stem cell:	n/a	chr13:53422780-53422790
45	CREB1	chr13:53420199-53420913	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr13:53420162-53421579	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr13:53424679-53425212	HepG2	liver:	n/a	n/a
48	CREB1	chr13:53424417-53425185	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr13:53424679-53426115	GM12878	blood:	n/a	n/a
50	CREB1	chr13:53420952-53421740	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2322 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53424127-53424177	K562	blood:	n/a
2	chr13:53423037-53423087	NHDF-neo	bronchial:	n/a
3	chr13:53420386-53420436	SKMC	muscle:	n/a
4	chr13:53420933-53420983	HCPEpiC	choroid plexus:	n/a
5	chr13:53424127-53424177	K562	blood:	n/a
6	chr13:53423037-53423087	NHDF-neo	bronchial:	n/a
7	chr13:53420386-53420436	SKMC	muscle:	n/a
8	chr13:53420933-53420983	HCPEpiC	choroid plexus:	n/a
9	chr13:53419617-53419667	AG10803	skin:	n/a
10	chr13:53422777-53422827	AoSMC	blood vessel:	n/a
11	chr13:53420135-53420185	SKMC	muscle:	n/a
12	chr13:53419617-53419667	NHBE	bronchial:	n/a
13	chr13:53425831-53425881	SK-N-MC	brain:	n/a
14	chr13:53422808-53422858	HCM	heart:	n/a
15	chr13:53423078-53423128	HCT-116	colon:	n/a
16	chr13:53426032-53426082	ECC-1	luminal epithelium:	n/a
17	chr13:53422860-53422910	GM12891	blood:	n/a
18	chr13:53456603-53456653	NH-A	brain:	n/a
19	chr13:53424716-53424766	ovcar-3	ovarian:	n/a
20	chr13:53425257-53425307	Hela-S3	cervix:	n/a
21	chr13:53420135-53420185	PANC-1	pancreas:	n/a
22	chr13:53424716-53424766	BJ	skin:	n/a
23	chr13:53423078-53423128	SK-N-MC	brain:	n/a
24	chr13:53422691-53422741	IMR90	lung:	fetal
25	chr13:53423037-53423087	T-47D	breast:	n/a
26	chr13:53422780-53422830	HCT-116	colon:	n/a
27	chr13:53424127-53424177	BE2_C	brain:	n/a
28	chr13:53429468-53429518	SK-N-SH	brain:	n/a
29	chr13:53420933-53420983	HEEpiC	esophagus:	n/a
30	chr13:53425961-53426011	NH-A	brain:	n/a
31	chr13:53420386-53420436	NT2-D1	testis:	n/a
32	chr13:53454712-53454762	HCF	heart:	n/a
33	chr13:53423078-53423128	AG10803	skin:	n/a
34	chr13:53425257-53425307	Jurkat	blood:	n/a
35	chr13:53422847-53422897	HMEC	breast:	n/a
36	chr13:53429468-53429518	BJ	skin:	n/a
37	chr13:53420425-53420475	ProgFib	skin:	n/a
38	chr13:53424049-53424099	NH-A	brain:	n/a
39	chr13:53425961-53426011	ECC-1	luminal epithelium:	n/a
40	chr13:53425635-53425685	GM12891	blood:	n/a
41	chr13:53424812-53424862	NH-A	brain:	n/a
42	chr13:53425257-53425307	SK-N-SH_RA	brain:	n/a
43	chr13:53426032-53426082	AG10803	skin:	n/a
44	chr13:53422860-53422910	T-47D	breast:	n/a
45	chr13:53456603-53456653	AG04449	skin:	fetal
46	chr13:53422474-53422524	SKMC	muscle:	n/a
47	chr13:53419596-53419646	HCM	heart:	n/a
48	chr13:53422860-53422910	HCM	heart:	n/a
49	chr13:53424032-53424082	ProgFib	skin:	n/a
50	chr13:53425257-53425307	HIPEpiC	eye:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53423269..53426675-chr13:53427472..53433524,8	MCF-7	breast:
2	chr13:53423819..53426475-chr13:53542000..53544855,3	MCF-7	breast:
3	chr13:53237822..53239845-chr13:53418461..53420570,2	MCF-7	breast:
4	chr13:53461940..53463906-chr13:53466644..53468336,2	MCF-7	breast:
5	chr13:53383426..53384206-chr13:53419815..53420378,2	MCF-7	breast:
6	chr13:53419410..53422161-chr13:53423908..53427048,5	MCF-7	breast:
7	chr13:53436242..53436760-chr13:53542342..53542902,2	K562	blood:
8	chr13:53413901..53415786-chr13:53423425..53426036,2	MCF-7	breast:
9	chr13:53239322..53239980-chr13:53420318..53420910,2	MCF-7	breast:
10	chr13:53424748..53427468-chr13:53541401..53543631,2	MCF-7	breast:
11	chr13:53426133..53429015-chr13:53553120..53555019,2	MCF-7	breast:
12	chr13:53419410..53422161-chr13:53423908..53427048,5	MCF-7	breast:
13	chr13:53433491..53436451-chr13:53545366..53547312,2	MCF-7	breast:
14	chr13:53423777..53426647-chr13:53440227..53445526,5	MCF-7	breast:
15	chr13:53436198..53437192-chr13:53541905..53542851,4	MCF-7	breast:
16	chr13:53449518..53452433-chr13:53575693..53577870,2	K562	blood:
17	chr13:53424477..53427390-chr13:53433560..53435155,3	MCF-7	breast:
18	chr13:53425388..53426892-chr13:53431589..53434414,2	MCF-7	breast:
19	chr13:53422829..53424558-chr13:53771804..53774307,2	MCF-7	breast:
20	chr13:53225538..53227071-chr13:53417980..53420315,2	MCF-7	breast:
21	chr13:53430783..53432822-chr13:53436862..53438439,2	MCF-7	breast:
22	chr13:53425388..53426892-chr13:53431589..53434414,2	MCF-7	breast:
23	chr13:53226555..53228977-chr13:53419370..53422779,3	MCF-7	breast:
24	chr13:53424477..53427390-chr13:53433560..53435155,3	MCF-7	breast:
25	chr13:53425233..53426207-chr13:53541827..53542911,3	MCF-7	breast:
26	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
27	chr13:53317860..53318834-chr13:53420019..53420858,3	MCF-7	breast:
28	chr13:53225548..53228779-chr13:53423444..53428429,4	MCF-7	breast:
29	chr13:53419539..53420191-chr13:53542097..53542726,2	MCF-7	breast:
30	chr13:53423777..53426647-chr13:53440227..53445526,5	MCF-7	breast:
31	chr13:53436613..53437297-chr13:53775140..53775836,2	MCF-7	breast:
32	chr13:53427306..53429529-chr13:53434457..53436275,3	MCF-7	breast:
33	chr13:53424598..53426748-chr13:53456688..53458919,2	MCF-7	breast:
34	chr13:53385344..53387771-chr13:53424492..53426608,2	MCF-7	breast:
35	chr13:53424886..53426427-chr13:53428788..53431175,2	MCF-7	breast:
36	chr13:53423269..53426675-chr13:53427472..53433524,8	MCF-7	breast:
37	chr13:53430783..53432822-chr13:53436862..53438439,2	MCF-7	breast:
38	chr13:53189284..53191816-chr13:53423878..53426423,2	MCF-7	breast:
39	chr13:53424598..53426748-chr13:53456688..53458919,2	MCF-7	breast:
40	chr13:53226333..53229941-chr13:53424392..53427948,4	MCF-7	breast:
41	chr13:53424499..53425128-chr13:53541822..53542463,2	MCF-7	breast:
42	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:
43	chr13:53239189..53240278-chr13:53420342..53420888,4	MCF-7	breast:
44	chr13:53424886..53426427-chr13:53428788..53431175,2	MCF-7	breast:
45	chr13:53436203..53437284-chr13:53541893..53542828,3	MCF-7	breast:
46	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:
47	chr13:53427306..53429529-chr13:53434457..53436275,3	MCF-7	breast:
48	chr13:53436129..53437138-chr13:53725658..53726672,3	MCF-7	breast:

No data

Variant related genes	Relation type
PCDH8	TF binding region
PCDH8	CpG island
ENSG00000139675	chromatin interactions
ENSG00000225510	chromatin interactions
ENSG00000165416	chromatin interactions
ENSG00000250299	chromatin interactions
ENSG00000211579	chromatin interactions
ENSG00000237092	chromatin interactions

Extended variants
information (count: 1588 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2236363	chr13:53419139-53419140	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572138106	chr13:53419184-53419185	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192145623	chr13:53419409-53419410	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143537854	chr13:53419423-53419424	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9568772	chr13:53419439-53419440	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549697877	chr13:53419470-53419471	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562922962	chr13:53419485-53419486	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28485533	chr13:53419514-53419515	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139502615	chr13:53419520-53419521	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551973184	chr13:53419543-53419544	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138487371	chr13:53419568-53419569	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576336303	chr13:53419591-53419592	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373463687	chr13:53419598-53419599	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143031746	chr13:53419605-53419606	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368311990	chr13:53419626-53419627	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146183192	chr13:53419675-53419676	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201713019	chr13:53419710-53419711	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201177017	chr13:53419715-53419716	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548787593	chr13:53419757-53419758	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201221162	chr13:53419761-53419762	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs5030686	chr13:53419765-53419766	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200253716	chr13:53419772-53419773	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201025487	chr13:53419773-53419774	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200879585	chr13:53419774-53419775	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368639996	chr13:53419776-53419777	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199754447	chr13:53419777-53419778	ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186746121	chr13:53419820-53419821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189691998	chr13:53419836-53419837	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553152494	chr13:53419865-53419866	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs527591959	chr13:53419875-53419876	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73494250	chr13:53419880-53419881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554732392	chr13:53419882-53419883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574319989	chr13:53419971-53419972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543309389	chr13:53419977-53419978	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373342879	chr13:53420021-53420022	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563281878	chr13:53420037-53420038	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200182252	chr13:53420063-53420064	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs149674876	chr13:53420065-53420066	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs17857085	chr13:53420072-53420073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559153648	chr13:53420115-53420116	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528207061	chr13:53420133-53420134	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548016632	chr13:53420137-53420138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568650642	chr13:53420158-53420159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531179041	chr13:53420165-53420166	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376226669	chr13:53420221-53420222	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551287635	chr13:53420222-53420223	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571170434	chr13:53420223-53420224	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201133850	chr13:53420234-53420235	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147568115	chr13:53420248-53420249	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368417139	chr13:53420258-53420259	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1044 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53413200-53419200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:53418400-53422400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53418600-53419200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:53418600-53419200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr13:53418600-53419400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:53418600-53419400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:53418600-53419400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr13:53418600-53419800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:53418600-53419800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:53418600-53419800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr13:53418600-53420800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
12	chr13:53418600-53420800	Bivalent Enhancer	Spleen	Spleen
13	chr13:53418600-53421800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:53418800-53419600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:53418800-53420600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
16	chr13:53418800-53422800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:53418800-53422800	Enhancers	Pancreas	Pancrea
18	chr13:53419000-53419200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr13:53419000-53419200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr13:53419000-53419400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:53419000-53419400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:53419000-53419400	Bivalent Enhancer	Right Ventricle	heart
23	chr13:53419000-53420400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr13:53419000-53420400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr13:53419000-53420600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
26	chr13:53419200-53419400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr13:53419200-53419400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr13:53419200-53419600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr13:53419200-53419800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr13:53419200-53420200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:53419200-53420800	Bivalent Enhancer	Fetal Thymus	thymus
32	chr13:53419400-53419600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr13:53419400-53419600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr13:53419400-53419600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
35	chr13:53419400-53419600	Bivalent Enhancer	Fetal Lung	lung
36	chr13:53419400-53419600	Bivalent Enhancer	NH-A	brain
37	chr13:53419400-53419800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr13:53419400-53420200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr13:53419400-53420200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr13:53419400-53420200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr13:53419400-53420400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:53419400-53420400	Bivalent/Poised TSS	Right Ventricle	heart
43	chr13:53419400-53421000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr13:53419400-53422000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:53419400-53422200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr13:53419400-53422600	Bivalent Enhancer	Lung	lung
47	chr13:53419400-53422800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:53419400-53423000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr13:53419400-53423200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr13:53419400-53423200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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