Variant report

Variant	esv3399787
Chromosome Location	chr1:151104353-151106901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:183)
Chromatin interactive
region (count:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:151103353-151104450	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:151105430-151105722	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:151104603-151104843	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr1:151106073-151106092	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:151105640-151105790	HMEC	breast:	n/a	n/a
6	CTCF	chr1:151105600-151105750	HMF	breast:	n/a	n/a
7	CTCF	chr1:151105591-151105779	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:151106020-151106070	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr1:151103259-151106011	H1-hESC	embryonic stem cell:	n/a	chr1:151103613-151103620 chr1:151103613-151103620 chr1:151103612-151103621 chr1:151103612-151103624 chr1:151103969-151103979 chr1:151103613-151103620
10	EGR1	chr1:151105046-151105466	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr1:151105111-151105423	K562	blood:	n/a	n/a
12	ELF1	chr1:151106104-151106597	GM12878	blood:	n/a	n/a
13	GTF2F1	chr1:151105948-151105974	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUN	chr1:151105969-151106119	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr1:151105893-151106229	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr1:151105069-151106289	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr1:151105411-151106236	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr1:151105610-151105730	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:151103388-151104921	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:151105226-151105354	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:151106069-151106204	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:151103584-151104424	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr1:151103318-151104732	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:151103375-151104674	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr1:151105788-151106035	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:151104756-151104798	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr1:151106057-151106066	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr1:151105607-151105807	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3A	chr1:151105540-151106276	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3A	chr1:151103383-151104557	H1-hESC	embryonic stem cell:	n/a	n/a
31	TBP	chr1:151105816-151106071	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB7A	chr1:151105301-151105457	K562	blood:	n/a	n/a
33	ZNF143	chr1:151105660-151105950	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF263	chr1:151106002-151106180	HEK293-T-REx	kidney:	n/a	chr1:151106006-151106015 chr1:151106143-151106164

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151104750-151104800	NT2-D1	testis:	n/a
2	chr1:151104367-151104417	K562	blood:	n/a
3	chr1:151105049-151105099	Jurkat	blood:	n/a
4	chr1:151105049-151105099	HL-60	blood:	n/a
5	chr1:151104367-151104417	BE2_C	brain:	n/a
6	chr1:151105049-151105099	AG09309	skin:	n/a
7	chr1:151105049-151105099	GM12891	blood:	n/a
8	chr1:151105049-151105099	HCT-116	colon:	n/a
9	chr1:151104750-151104800	BE2_C	brain:	n/a
10	chr1:151105049-151105099	NB4	blood:	n/a
11	chr1:151105049-151105099	NHDF-neo	bronchial:	n/a
12	chr1:151105049-151105099	T-47D	breast:	n/a
13	chr1:151104750-151104800	HMEC	breast:	n/a
14	chr1:151104750-151104800	RPTEC	kidney:	n/a
15	chr1:151104750-151104800	HCT-116	colon:	n/a
16	chr1:151104750-151104800	HCPEpiC	choroid plexus:	n/a
17	chr1:151104750-151104800	Jurkat	blood:	n/a
18	chr1:151104750-151104800	SK-N-SH	brain:	n/a
19	chr1:151104367-151104417	AG04450	lung:	fetal
20	chr1:151104367-151104417	MCF10A-Er-Src	breast:	n/a
21	chr1:151104367-151104417	PrEC	prostate:	n/a
22	chr1:151105049-151105099	U87	brain:	n/a
23	chr1:151105049-151105099	Hela-S3	cervix:	n/a
24	chr1:151104367-151104417	PANC-1	pancreas:	n/a
25	chr1:151104750-151104800	AG10803	skin:	n/a
26	chr1:151105049-151105099	AG04450	lung:	fetal
27	chr1:151104750-151104800	SKMC	muscle:	n/a
28	chr1:151104750-151104800	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:151105049-151105099	HMEC	breast:	n/a
30	chr1:151105049-151105099	HRE	kidney:	n/a
31	chr1:151104367-151104417	HCF	heart:	n/a
32	chr1:151104750-151104800	LNCaP	prostate:	n/a
33	chr1:151104750-151104800	AG04450	lung:	fetal
34	chr1:151105049-151105099	AG10803	skin:	n/a
35	chr1:151105049-151105099	SK-N-SH_RA	brain:	n/a
36	chr1:151104750-151104800	HIPEpiC	eye:	n/a
37	chr1:151105049-151105099	PrEC	prostate:	n/a
38	chr1:151105049-151105099	HEEpiC	esophagus:	n/a
39	chr1:151104750-151104800	AG04449	skin:	fetal
40	chr1:151105049-151105099	MCF-7	breast:	n/a
41	chr1:151105049-151105099	SKMC	muscle:	n/a
42	chr1:151104367-151104417	HAEpiC	amniotic membrane:	n/a
43	chr1:151105049-151105099	HepG2	liver:	n/a
44	chr1:151104750-151104800	GM12891	blood:	n/a
45	chr1:151104367-151104417	AG09309	skin:	n/a
46	chr1:151105049-151105099	NHBE	bronchial:	n/a
47	chr1:151104750-151104800	NH-A	brain:	n/a
48	chr1:151104367-151104417	GM12878	blood:	n/a
49	chr1:151104367-151104417	LNCaP	prostate:	n/a
50	chr1:151104367-151104417	PFSK-1	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151106109..151108676-chr1:151117941..151119953,3	K562	blood:
2	chr1:151104790..151107252-chr1:151107376..151109485,2	K562	blood:
3	chr1:150980411..150982537-chr1:151106245..151107794,2	K562	blood:
4	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:
5	chr1:151104617..151106812-chr1:151117447..151119044,2	MCF-7	breast:
6	chr1:151106109..151110392-chr1:151117941..151122227,5	K562	blood:
7	chr1:151104720..151106721-chr1:151225505..151227550,2	MCF-7	breast:
8	chr1:151101938..151104431-chr1:151107566..151109145,2	MCF-7	breast:
9	chr1:151106097..151107684-chr1:151136573..151139445,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYSMD1-3	chr1:151104543-151104957	NONHSAT006362
2	lnc-LYSMD1-3	chr1:151105273-151105344	NONHSAT006362
3	lnc-LYSMD1-2	chr1:151106807-151107151	NONHSAT006364

No data

Variant related genes	Relation type
SEMA6C	TF binding region
ENSG00000261168	TF binding region
SEMA6C	CpG island
ENSG00000261168	CpG island
ENSG00000143434	chromatin interactions
ENSG00000143363	chromatin interactions
ENSG00000163155	chromatin interactions
ENSG00000143409	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000163156	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149084026	chr1:151104371-151104372	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs587660825	chr1:151104376-151104377	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs587734391	chr1:151104409-151104410	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143102635	chr1:151104430-151104431	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs587693663	chr1:151104447-151104448	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376979371	chr1:151104474-151104475	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs41267548	chr1:151104498-151104499	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs587634804	chr1:151104513-151104514	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192640011	chr1:151104575-151104576	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs4971005	chr1:151104598-151104599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs587637191	chr1:151104614-151104615	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs371299122	chr1:151104618-151104619	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs587602818	chr1:151104642-151104643	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs587698691	chr1:151104667-151104668	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs370873006	chr1:151104784-151104785	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs587750686	chr1:151104812-151104813	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs587652702	chr1:151104835-151104836	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs41267550	chr1:151104840-151104841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs140125789	chr1:151104865-151104866	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs587671141	chr1:151104896-151104897	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs188352737	chr1:151104897-151104898	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs587606174	chr1:151104906-151104907	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs587653513	chr1:151104917-151104918	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs587715094	chr1:151104942-151104943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs10788800	chr1:151104950-151104951	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs587681409	chr1:151104973-151104974	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs587736850	chr1:151105031-151105032	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200137396	chr1:151105073-151105074	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs75585997	chr1:151105076-151105077	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs377095094	chr1:151105077-151105078	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs587740314	chr1:151105118-151105119	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs369624067	chr1:151105146-151105147	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs587693283	chr1:151105148-151105149	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113931841	chr1:151105150-151105151	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200069416	chr1:151105169-151105170	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs587637610	chr1:151105176-151105177	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587717336	chr1:151105177-151105178	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587771415	chr1:151105406-151105407	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs587670724	chr1:151105477-151105478	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368154990	chr1:151105498-151105499	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs202096478	chr1:151105547-151105548	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs587636099	chr1:151105549-151105550	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs587721762	chr1:151105593-151105594	Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs587604256	chr1:151105602-151105603	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs200026035	chr1:151105616-151105617	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs112209265	chr1:151105641-151105642	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs587714162	chr1:151105664-151105665	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs587611161	chr1:151105732-151105733	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs201388745	chr1:151105758-151105759	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs587743691	chr1:151105769-151105770	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151061800-151105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:151079800-151106200	Weak transcription	HSMMtube	muscle
3	chr1:151079800-151114800	Weak transcription	HSMM	muscle
4	chr1:151090800-151105000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:151097800-151105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:151097800-151106000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:151103000-151104600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151103200-151104400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:151103200-151104400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:151103200-151104400	Active TSS	Fetal Kidney	kidney
11	chr1:151103200-151104600	Active TSS	Brain Anterior Caudate	brain
12	chr1:151103200-151106000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:151103400-151104400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:151103400-151104400	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr1:151103400-151104400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:151103400-151104400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:151103400-151104400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr1:151103400-151104400	Active TSS	Aorta	Aorta
19	chr1:151103400-151104400	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:151103400-151104400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:151103400-151104400	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:151103400-151104400	Flanking Active TSS	NHLF	lung
23	chr1:151103400-151104600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:151103400-151104600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:151103400-151104600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:151103400-151104600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:151103400-151104600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:151103400-151104600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:151103400-151104600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
30	chr1:151103400-151104600	Active TSS	Osteobl	bone
31	chr1:151103400-151104800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:151103400-151104800	Flanking Active TSS	Fetal Brain Female	brain
33	chr1:151103400-151104800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr1:151103400-151104800	Flanking Active TSS	Placenta	Placenta
35	chr1:151103400-151105000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:151103400-151105000	Active TSS	Right Atrium	heart
37	chr1:151103400-151105800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:151103400-151105800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:151103400-151105800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:151103400-151105800	Active TSS	Ovary	ovary
41	chr1:151103400-151106000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:151103400-151106200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:151103400-151106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:151103600-151104400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:151103600-151104400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr1:151103600-151104400	Active TSS	Primary T cells from cord blood	blood
47	chr1:151103600-151104400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr1:151103600-151104400	Active TSS	Esophagus	oesophagus
49	chr1:151103600-151104400	Active TSS	Right Ventricle	heart
50	chr1:151103600-151104400	Flanking Active TSS	GM12878-XiMat	blood

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