Variant report

Variant	nsv970166
Chromosome Location	chr6:133135836-133136464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:529)
CpG islands
(count:488)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:133135183-133135945	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:133135176-133136074	K562	blood:	n/a	n/a
3	ATF2	chr6:133135064-133136140	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:133135112-133136032	GM12878	blood:	n/a	n/a
5	ATF2	chr6:133135123-133137131	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:133133920-133136221	GM12878	blood:	n/a	n/a
7	ATF3	chr6:133135099-133135938	A549	lung:	n/a	n/a
8	BACH1	chr6:133135475-133135974	K562	blood:	n/a	n/a
9	BCL11A	chr6:133135567-133135850	GM12878	blood:	n/a	n/a
10	BCL11A	chr6:133135530-133135950	GM12878	blood:	n/a	n/a
11	BCL3	chr6:133135314-133135961	GM12878	blood:	n/a	n/a
12	BCL3	chr6:133135074-133135954	A549	lung:	n/a	n/a
13	BCL3	chr6:133135109-133136146	A549	lung:	n/a	n/a
14	BCLAF1	chr6:133135096-133136057	K562	blood:	n/a	n/a
15	BCLAF1	chr6:133135097-133136046	GM12878	blood:	n/a	n/a
16	BCLAF1	chr6:133135109-133136572	GM12878	blood:	n/a	n/a
17	BCLAF1	chr6:133135173-133136084	K562	blood:	n/a	n/a
18	BHLHE40	chr6:133133525-133135904	K562	blood:	n/a	chr6:133134469-133134478 chr6:133134469-133134478
19	BHLHE40	chr6:133133910-133136039	HepG2	liver:	n/a	chr6:133134469-133134478 chr6:133134469-133134478
20	BHLHE40	chr6:133133833-133136004	GM12878	blood:	n/a	chr6:133134469-133134478 chr6:133134469-133134478
21	BRCA1	chr6:133135246-133135938	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr6:133135184-133135901	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr6:133135203-133135928	HepG2	liver:	n/a	n/a
24	CBX3	chr6:133133875-133136128	K562	blood:	n/a	n/a
25	CBX3	chr6:133135127-133135890	K562	blood:	n/a	n/a
26	CCNT2	chr6:133135256-133136256	K562	blood:	n/a	n/a
27	CEBPB	chr6:133135138-133135905	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr6:133134749-133135854	K562	blood:	n/a	n/a
29	CEBPB	chr6:133135251-133135882	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr6:133134554-133136012	GM12878	blood:	n/a	n/a
31	CEBPB	chr6:133134953-133135947	K562	blood:	n/a	n/a
32	CEBPD	chr6:133135193-133135999	HepG2	liver:	n/a	n/a
33	CEBPD	chr6:133135011-133136040	K562	blood:	n/a	n/a
34	CEBPD	chr6:133135542-133135901	HepG2	liver:	n/a	n/a
35	CHD1	chr6:133134300-133136139	GM12878	blood:	n/a	n/a
36	CHD1	chr6:133133718-133139140	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr6:133135033-133138202	IMR90	lung:	n/a	n/a
38	CHD2	chr6:133134392-133135943	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr6:133135154-133136787	K562	blood:	n/a	n/a
40	CHD2	chr6:133135216-133136086	HepG2	liver:	n/a	n/a
41	CHD2	chr6:133135201-133135906	GM12878	blood:	n/a	n/a
42	CHD2	chr6:133135121-133136015	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr6:133135108-133136271	GM12878	blood:	n/a	n/a
44	CREB1	chr6:133135148-133135926	A549	lung:	n/a	n/a
45	CREB1	chr6:133135054-133135953	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr6:133135808-133136381	T-47D	breast:	n/a	n/a
47	CUX1	chr6:133135132-133135852	K562	blood:	n/a	n/a
48	E2F4	chr6:133134879-133136342	K562	blood:	n/a	chr6:133135649-133135658
49	E2F6	chr6:133135107-133136261	K562	blood:	n/a	chr6:133135649-133135658
50	EBF1	chr6:133135211-133135919	GM12878	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:133136317-133136367	K562	blood:	n/a
2	chr6:133136015-133136065	H1-hESC	embryonic stem cell:	embryo
3	chr6:133135904-133135954	HepG2	liver:	n/a
4	chr6:133136015-133136065	HRE	kidney:	n/a
5	chr6:133136339-133136389	CMK	blood:	n/a
6	chr6:133135828-133135878	SK-N-MC	brain:	n/a
7	chr6:133136015-133136065	GM12878	blood:	n/a
8	chr6:133136347-133136397	NB4	blood:	n/a
9	chr6:133135904-133135954	HEEpiC	esophagus:	n/a
10	chr6:133136339-133136389	SAEC	small airway:	n/a
11	chr6:133135828-133135878	HEK293	kidney:	embryo
12	chr6:133136347-133136397	ovcar-3	ovarian:	n/a
13	chr6:133136339-133136389	NH-A	brain:	n/a
14	chr6:133136347-133136397	Hepatocyte	liver:	n/a
15	chr6:133136135-133136185	Hepatocyte	liver:	n/a
16	chr6:133136015-133136065	HMEC	breast:	n/a
17	chr6:133136339-133136389	HEEpiC	esophagus:	n/a
18	chr6:133136347-133136397	AG04450	lung:	fetal
19	chr6:133136339-133136389	NHDF-neo	bronchial:	n/a
20	chr6:133136339-133136389	BE2_C	brain:	n/a
21	chr6:133136015-133136065	MCF10A-Er-Src	breast:	n/a
22	chr6:133136266-133136316	PANC-1	pancreas:	n/a
23	chr6:133136135-133136185	BE2_C	brain:	n/a
24	chr6:133136135-133136185	U87	brain:	n/a
25	chr6:133136317-133136367	NB4	blood:	n/a
26	chr6:133136015-133136065	HL-60	blood:	n/a
27	chr6:133135904-133135954	K562	blood:	n/a
28	chr6:133136339-133136389	HCPEpiC	choroid plexus:	n/a
29	chr6:133136015-133136065	HCM	heart:	n/a
30	chr6:133136135-133136185	SK-N-MC	brain:	n/a
31	chr6:133136317-133136367	GM12878	blood:	n/a
32	chr6:133136339-133136389	PrEC	prostate:	n/a
33	chr6:133136015-133136065	K562	blood:	n/a
34	chr6:133135828-133135878	A549	lung:	n/a
35	chr6:133136015-133136065	SKMC	muscle:	n/a
36	chr6:133136347-133136397	NH-A	brain:	n/a
37	chr6:133136135-133136185	NB4	blood:	n/a
38	chr6:133135904-133135954	Jurkat	blood:	n/a
39	chr6:133135904-133135954	HCM	heart:	n/a
40	chr6:133136135-133136185	AG04450	lung:	fetal
41	chr6:133135904-133135954	HRCEpiC	kidney:	n/a
42	chr6:133136015-133136065	NH-A	brain:	n/a
43	chr6:133136015-133136065	HRPEpiC	eye:	n/a
44	chr6:133136135-133136185	HEK293	kidney:	embryo
45	chr6:133136339-133136389	AoSMC	blood vessel:	n/a
46	chr6:133136266-133136316	NH-A	brain:	n/a
47	chr6:133136266-133136316	HRE	kidney:	n/a
48	chr6:133136317-133136367	GM19239	blood:	n/a
49	chr6:133136347-133136397	CMK	blood:	n/a
50	chr6:133135904-133135954	HPAEpiC	pulmonary alveolar:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:63449130..63449939-chr6:133135315..133135869,2	Hela-S3	cervix:
2	chr6:133135261..133136170-chr7:7680235..7681119,2	Hela-S3	cervix:
3	chr6:133135254..133135853-chr7:99698047..99698863,2	NB4	blood:
4	chr6:133135395..133135910-chr9:102668805..102669502,2	MCF-7	breast:
5	chr5:171614819..171615648-chr6:133135259..133136064,2	Hela-S3	cervix:
6	chr1:33429448..33430407-chr6:133134991..133135963,2	Hela-S3	cervix:
7	chr6:133135683..133136351-chr9:130547259..130548177,2	Hela-S3	cervix:
8	chr22:42739071..42740021-chr6:133135515..133136044,2	HCT-116	colon:
9	chr6:132965299..132967214-chr6:133134332..133136020,2	K562	blood:
10	chr19:2163733..2164433-chr6:133135620..133136388,2	HCT-116	colon:
11	chr6:132832429..132834669-chr6:133134284..133137002,3	K562	blood:
12	chr14:69259781..69261291-chr6:133134489..133136848,2	MCF-7	breast:
13	chr6:133134320..133137127-chr6:136569335..136571574,2	K562	blood:
14	chr17:73083843..73084453-chr6:133135605..133136113,2	Hela-S3	cervix:
15	chr6:132855902..132859597-chr6:133135974..133139810,3	K562	blood:
16	chr1:159894871..159895411-chr6:133135389..133136277,2	Hela-S3	cervix:
17	chr5:77656072..77656696-chr6:133135247..133136163,2	Hela-S3	cervix:
18	chr20:52224699..52226307-chr6:133135521..133137429,2	MCF-7	breast:
19	chr1:94146402..94147127-chr6:133135595..133136405,2	Hela-S3	cervix:
20	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
21	chr11:122932373..122933017-chr6:133135657..133136205,2	Hela-S3	cervix:
22	chr6:132833194..132835178-chr6:133134140..133136704,2	MCF-7	breast:
23	chr6:133084415..133087080-chr6:133134762..133137402,2	MCF-7	breast:
24	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
25	chr1:150039196..150039749-chr6:133135355..133136176,2	Hela-S3	cervix:
26	chr6:133135224..133137195-chr7:86974442..86977103,2	MCF-7	breast:
27	chr6:133084942..133087324-chr6:133134860..133137280,2	MCF-7	breast:
28	chr19:58873348..58874285-chr6:133135194..133136031,2	Hela-S3	cervix:
29	chr19:1478974..1479621-chr6:133135658..133136245,2	Hela-S3	cervix:
30	chr17:79479507..79480059-chr6:133135411..133136304,2	HCT-116	colon:
31	chr1:853806..855355-chr6:133134480..133137289,2	MCF-7	breast:
32	chr6:132994919..132997703-chr6:133134162..133135954,3	MCF-7	breast:
33	chr6:133135604..133137467-chr6:144606007..144608305,2	K562	blood:
34	chr6:133135551..133136205-chrX:117479469..117480079,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SNORD101	TF binding region
SNORA33	TF binding region
SNORD100	TF binding region
SNORD101	CpG island
SNORA33	CpG island
SNORD100	CpG island
ENSG00000166508	chromatin interactions
ENSG00000223764	chromatin interactions
ENSG00000112303	chromatin interactions
ENSG00000146410	chromatin interactions
ENSG00000005469	chromatin interactions
ENSG00000109971	chromatin interactions
ENSG00000182165	chromatin interactions
ENSG00000152818	chromatin interactions
ENSG00000268230	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000271488	chromatin interactions
ENSG00000136874	chromatin interactions
ENSG00000136631	chromatin interactions
ENSG00000119559	chromatin interactions
ENSG00000269054	chromatin interactions
ENSG00000219545	chromatin interactions
ENSG00000100207	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000255145	chromatin interactions
ENSG00000072786	chromatin interactions
ENSG00000218194	chromatin interactions
ENSG00000131725	chromatin interactions
ENSG00000170190	chromatin interactions
ENSG00000085365	chromatin interactions
ENSG00000158710	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000266070	chromatin interactions
ENSG00000116514	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000146399	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000237110	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000104885	chromatin interactions
ENSG00000174586	chromatin interactions
ENSG00000245556	chromatin interactions
ENSG00000136807	chromatin interactions
ENSG00000079950	chromatin interactions
ENSG00000185088	chromatin interactions
ENSG00000146409	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372382973	chr6:133135838-133135839	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
2	rs12202302	chr6:133135864-133135865	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	41 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs113320052	chr6:133135868-133135869	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
4	rs112352320	chr6:133135869-133135870	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
5	rs545465873	chr6:133135871-133135872	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
6	rs201801635	chr6:133135873-133135874	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
7	rs576051437	chr6:133135876-133135877	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
8	rs376728133	chr6:133135880-133135881	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
9	rs542049814	chr6:133135884-133135885	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
10	rs9483504	chr6:133135886-133135887	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
11	rs188597053	chr6:133135887-133135888	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
12	rs549056528	chr6:133135891-133135892	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
13	rs540948820	chr6:133135893-133135894	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
14	rs200878634	chr6:133135901-133135902	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
15	rs369163823	chr6:133135905-133135906	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
16	rs377319667	chr6:133135952-133135953	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
17	rs200144332	chr6:133135956-133135957	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
18	rs116977414	chr6:133135960-133135961	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
19	rs200483824	chr6:133135968-133135969	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
20	rs41286196	chr6:133135974-133135975	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	37 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549409043	chr6:133135982-133135983	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
22	rs566295400	chr6:133135987-133135988	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
23	rs535195650	chr6:133136023-133136024	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
24	rs558522080	chr6:133136024-133136025	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
25	rs549698017	chr6:133136026-133136027	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
26	rs12202407	chr6:133136029-133136030	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs555878016	chr6:133136035-133136036	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
28	rs9493451	chr6:133136041-133136042	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113440539	chr6:133136054-133136055	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
30	rs569919528	chr6:133136060-133136061	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
31	rs201982582	chr6:133136074-133136075	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
32	rs536953841	chr6:133136083-133136084	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
33	rs181385497	chr6:133136085-133136086	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
34	rs75573053	chr6:133136087-133136088	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
35	rs78727723	chr6:133136088-133136089	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
36	rs200124189	chr6:133136092-133136093	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
37	rs183751207	chr6:133136094-133136095	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
38	rs202111527	chr6:133136100-133136101	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
39	rs377325356	chr6:133136102-133136103	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
40	rs143874096	chr6:133136103-133136104	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
41	rs189654161	chr6:133136118-133136119	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
42	rs147158428	chr6:133136129-133136130	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
43	rs148631804	chr6:133136134-133136135	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
44	rs142130624	chr6:133136135-133136136	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
45	rs150874851	chr6:133136136-133136137	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
46	rs139382620	chr6:133136143-133136144	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
47	rs201019637	chr6:133136145-133136146	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
48	rs563533502	chr6:133136147-133136148	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
49	rs368164537	chr6:133136152-133136153	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
50	rs11543334	chr6:133136163-133136164	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133133400-133136000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:133133400-133136000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:133133400-133136200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:133133400-133136200	Active TSS	NHDF-Ad	bronchial
5	chr6:133133400-133136400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:133133600-133136000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:133133600-133136000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:133133600-133136000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:133133600-133136000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:133133600-133136000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:133133600-133136000	Active TSS	Fetal Lung	lung
12	chr6:133133600-133136200	Active TSS	Brain Substantia Nigra	brain
13	chr6:133133600-133136400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr6:133133600-133136400	Active TSS	Brain Angular Gyrus	brain
15	chr6:133133600-133136400	Active TSS	Brain Anterior Caudate	brain
16	chr6:133133600-133136600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:133133600-133136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:133133600-133136800	Active TSS	Brain Cingulate Gyrus	brain
19	chr6:133133600-133137000	Active TSS	Aorta	Aorta
20	chr6:133133600-133137000	Active TSS	Fetal Intestine Small	intestine
21	chr6:133133600-133137000	Active TSS	Ovary	ovary
22	chr6:133133600-133137000	Active TSS	Thymus	Thymus
23	chr6:133133600-133137200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:133133600-133137200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:133133600-133137200	Active TSS	Colonic Mucosa	Colon
26	chr6:133133800-133136000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr6:133133800-133136200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:133133800-133136200	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:133133800-133136400	Active TSS	Fetal Thymus	thymus
30	chr6:133133800-133136600	Active TSS	Colon Smooth Muscle	Colon
31	chr6:133133800-133136600	Active TSS	Small Intestine	intestine
32	chr6:133133800-133136800	Active TSS	Fetal Muscle Trunk	muscle
33	chr6:133133800-133136800	Active TSS	Placenta	Placenta
34	chr6:133133800-133136800	Active TSS	Fetal Stomach	stomach
35	chr6:133133800-133137000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:133133800-133137000	Active TSS	Fetal Intestine Large	intestine
37	chr6:133133800-133137000	Active TSS	Right Ventricle	heart
38	chr6:133133800-133137000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:133133800-133137000	Active TSS	Stomach Mucosa	stomach
40	chr6:133133800-133137200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:133134000-133136000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:133134000-133136000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr6:133134000-133136000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:133134000-133136000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr6:133134000-133136000	Active TSS	HMEC	breast
46	chr6:133134000-133136000	Active TSS	K562	blood
47	chr6:133134000-133136200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:133134000-133136200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:133134000-133136200	Active TSS	Primary B cells from peripheral blood	blood
50	chr6:133134000-133136200	Active TSS	Primary T cells from cord blood	blood

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