Variant report

Variant	esv32799
Chromosome Location	chr1:161161838-161171520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:792)
CpG islands
(count:857)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:161170671-161170987	HepG2	liver:	n/a	n/a
2	BACH1	chr1:161166694-161166884	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:161170719-161170876	K562	blood:	n/a	n/a
4	BACH1	chr1:161170468-161170733	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr1:161168744-161168745	K562	blood:	n/a	n/a
6	BHLHE40	chr1:161171271-161172619	K562	blood:	n/a	n/a
7	BHLHE40	chr1:161162319-161162624	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:161164984-161165251	GM12878	blood:	n/a	n/a
9	BRCA1	chr1:161162365-161162390	HepG2	liver:	n/a	n/a
10	BRCA1	chr1:161162422-161162652	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr1:161169946-161170889	K562	blood:	n/a	n/a
12	CBX3	chr1:161170905-161171599	K562	blood:	n/a	n/a
13	CCNT2	chr1:161168255-161168452	K562	blood:	n/a	n/a
14	CEBPB	chr1:161171228-161171596	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:161171226-161171548	K562	blood:	n/a	n/a
16	CEBPB	chr1:161171293-161171472	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr1:161171259-161172608	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr1:161168362-161168605	Hela-S3	cervix:	n/a	n/a
19	CHD1	chr1:161164983-161165296	GM12878	blood:	n/a	n/a
20	CHD2	chr1:161162350-161162577	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr1:161168833-161168873	K562	blood:	n/a	n/a
22	CHD2	chr1:161168229-161168635	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr1:161170757-161170977	HepG2	liver:	n/a	n/a
24	CHD2	chr1:161170567-161171023	K562	blood:	n/a	n/a
25	CHD2	chr1:161165038-161165528	GM12878	blood:	n/a	n/a
26	CHD2	chr1:161168763-161169067	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr1:161166689-161166914	K562	blood:	n/a	n/a
28	CHD2	chr1:161171218-161171219	HepG2	liver:	n/a	n/a
29	CHD2	chr1:161170565-161170944	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTBP2	chr1:161167958-161169143	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:161162400-161162550	GM12872	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
32	CTCF	chr1:161162332-161162588	Fibrobl	skin:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
33	CTCF	chr1:161163769-161163949	ProgFib	skin:	n/a	n/a
34	CTCF	chr1:161162325-161162613	Pancreas_OC	pancreas:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
35	CTCF	chr1:161162380-161162530	Hela-S3	cervix:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
36	CTCF	chr1:161161900-161162050	AG10803	skin:	n/a	n/a
37	CTCF	chr1:161162420-161162570	WI-38	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
38	CTCF	chr1:161168120-161168270	HVMF	connective:	n/a	n/a
39	CTCF	chr1:161168060-161168210	AG09319	gingival:	n/a	n/a
40	CTCF	chr1:161163720-161163870	HEK293	kidney:	n/a	n/a
41	CTCF	chr1:161168060-161168210	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr1:161163833-161163910	GM19239	blood:	n/a	n/a
43	CTCF	chr1:161163820-161163970	HMF	breast:	n/a	n/a
44	CTCF	chr1:161168060-161168210	AG10803	skin:	n/a	n/a
45	CTCF	chr1:161162324-161162615	HUVEC	blood vessel:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
46	CTCF	chr1:161168120-161168270	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr1:161163800-161163950	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr1:161162400-161162550	GM12869	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
49	CTCF	chr1:161168120-161168270	HRE	kidney:	n/a	n/a
50	CTCF	chr1:161163820-161163970	RPTEC	kidney:	n/a	n/a

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161168145-161168195	HL-60	blood:	n/a
2	chr1:161169574-161169624	H1-hESC	embryonic stem cell:	embryo
3	chr1:161168889-161168939	NHBE	bronchial:	n/a
4	chr1:161168145-161168195	HL-60	blood:	n/a
5	chr1:161169574-161169624	H1-hESC	embryonic stem cell:	embryo
6	chr1:161168889-161168939	NHBE	bronchial:	n/a
7	chr1:161169143-161169193	BJ	skin:	n/a
8	chr1:161171211-161171261	MCF-7	breast:	n/a
9	chr1:161168145-161168195	NH-A	brain:	n/a
10	chr1:161168145-161168195	BE2_C	brain:	n/a
11	chr1:161168451-161168501	NT2-D1	testis:	n/a
12	chr1:161169164-161169214	HepG2	liver:	n/a
13	chr1:161171469-161171519	SK-N-MC	brain:	n/a
14	chr1:161167745-161167795	A549	lung:	n/a
15	chr1:161171383-161171433	T-47D	breast:	n/a
16	chr1:161168145-161168195	HMEC	breast:	n/a
17	chr1:161169164-161169214	SAEC	small airway:	n/a
18	chr1:161171211-161171261	NB4	blood:	n/a
19	chr1:161171469-161171519	K562	blood:	n/a
20	chr1:161170110-161170160	ProgFib	skin:	n/a
21	chr1:161171211-161171261	HIPEpiC	eye:	n/a
22	chr1:161170110-161170160	AG10803	skin:	n/a
23	chr1:161169143-161169193	SKMC	muscle:	n/a
24	chr1:161169007-161169057	Hela-S3	cervix:	n/a
25	chr1:161168957-161169007	Jurkat	blood:	n/a
26	chr1:161169574-161169624	SAEC	small airway:	n/a
27	chr1:161171469-161171519	HepG2	liver:	n/a
28	chr1:161168856-161168906	A549	lung:	n/a
29	chr1:161168957-161169007	AG04450	lung:	fetal
30	chr1:161168145-161168195	BJ	skin:	n/a
31	chr1:161167745-161167795	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:161169007-161169057	PANC-1	pancreas:	n/a
33	chr1:161168451-161168501	SK-N-SH_RA	brain:	n/a
34	chr1:161169143-161169193	GM12878	blood:	n/a
35	chr1:161168856-161168906	ovcar-3	ovarian:	n/a
36	chr1:161168856-161168906	NHBE	bronchial:	n/a
37	chr1:161169164-161169214	PrEC	prostate:	n/a
38	chr1:161170110-161170160	NHDF-neo	bronchial:	n/a
39	chr1:161168957-161169007	U87	brain:	n/a
40	chr1:161171469-161171519	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:161169574-161169624	HL-60	blood:	n/a
42	chr1:161171211-161171261	SK-N-MC	brain:	n/a
43	chr1:161168889-161168939	RPTEC	kidney:	n/a
44	chr1:161168856-161168906	CMK	blood:	n/a
45	chr1:161169574-161169624	HCF	heart:	n/a
46	chr1:161168856-161168906	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:161169164-161169214	RPTEC	kidney:	n/a
48	chr1:161171211-161171261	CMK	blood:	n/a
49	chr1:161168856-161168906	PrEC	prostate:	n/a
50	chr1:161168889-161168939	NB4	blood:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:161162001..161162966-chr1:161195045..161195904,3	MCF-7	breast:
2	chr1:161141471..161144322-chr1:161168874..161171385,2	K562	blood:
3	chr1:161136333..161138132-chr1:161170864..161173587,2	K562	blood:
4	chr1:161161386..161164009-chr1:161188467..161191186,2	MCF-7	breast:
5	chr1:161159866..161163748-chr1:161166740..161171576,6	MCF-7	breast:
6	chr1:161160904..161162773-chr1:161163879..161166104,2	MCF-7	breast:
7	chr1:161086324..161088936-chr1:161160817..161162569,2	K562	blood:
8	chr1:161162284..161164231-chr1:161350285..161353157,2	MCF-7	breast:
9	chr1:161159692..161162079-chr1:161195568..161198252,2	K562	blood:
10	chr1:161162025..161162580-chr1:161351852..161352505,3	K562	blood:
11	chr1:161122537..161125148-chr1:161162988..161165474,2	K562	blood:
12	chr1:161127959..161129889-chr1:161169079..161171967,3	K562	blood:
13	chr1:161166242..161168991-chr1:161344064..161345577,2	MCF-7	breast:
14	chr1:161162532..161167192-chr1:161195273..161197784,4	K562	blood:
15	chr1:161163396..161164093-chr1:161352009..161352586,2	MCF-7	breast:
16	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:
17	chr1:161170883..161171418-chr12:48213360..48214115,2	NB4	blood:
18	chr1:161170756..161173506-chr1:161282085..161284207,2	MCF-7	breast:
19	chr1:161165177..161166980-chr1:161171172..161173664,3	MCF-7	breast:
20	chr1:161162222..161163044-chr1:161179334..161180230,2	MCF-7	breast:
21	chr1:161162295..161163089-chr1:161179309..161179869,2	MCF-7	breast:
22	chr1:161146691..161149700-chr1:161167979..161170838,3	K562	blood:
23	chr1:161166482..161168159-chr1:161197739..161199881,2	MCF-7	breast:
24	chr1:161167464..161169651-chr1:161275959..161277953,2	K562	blood:
25	chr1:161157327..161160707-chr1:161160939..161164830,4	K562	blood:
26	chr1:161166987..161169982-chr1:161170593..161173822,5	MCF-7	breast:
27	chr1:161166987..161169982-chr1:161170593..161173822,5	MCF-7	breast:
28	chr1:161085681..161087809-chr1:161170226..161171780,2	K562	blood:
29	chr1:161160858..161163554-chr1:161335884..161337971,2	MCF-7	breast:
30	chr1:161162435..161162964-chr1:161195082..161195632,2	K562	blood:
31	chr1:161162124..161162789-chr1:161260973..161261767,2	MCF-7	breast:
32	chr1:161144879..161147877-chr1:161169961..161172564,2	K562	blood:
33	chr1:161162448..161162950-chr1:161179543..161180226,2	K562	blood:
34	chr1:161167845..161171671-chr1:161283687..161286298,5	K562	blood:
35	chr1:161163988..161166872-chr1:161195366..161197784,2	K562	blood:
36	chr1:161152355..161156919-chr1:161160220..161163172,6	K562	blood:
37	chr1:161128751..161130724-chr1:161170850..161173844,2	MCF-7	breast:
38	chr1:161161843..161164361-chr1:161165449..161168112,2	MCF-7	breast:
39	chr1:161159836..161162629-chr1:161171704..161173335,2	MCF-7	breast:
40	chr1:161145403..161148236-chr1:161171052..161173783,2	MCF-7	breast:
41	chr1:161167864..161169396-chr1:161369052..161371683,2	MCF-7	breast:
42	chr1:161160427..161162959-chr1:161172142..161173737,2	MCF-7	breast:
43	chr1:161141524..161143840-chr1:161170719..161172655,2	MCF-7	breast:
44	chr1:161147057..161148568-chr1:161166119..161168156,2	MCF-7	breast:
45	chr1:161171378..161172372-chr20:62371910..62372639,2	Hela-S3	cervix:
46	chr1:161146561..161149011-chr1:161170994..161172793,2	K562	blood:
47	chr1:161141540..161143132-chr1:161160506..161162338,2	K562	blood:
48	chr1:161140934..161143021-chr1:161168677..161170502,2	MCF-7	breast:
49	chr1:161165177..161166980-chr1:161171172..161173664,3	MCF-7	breast:
50	chr1:161170229..161173658-chr1:161194306..161198397,5	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFS2	TF binding region
ADAMTS4	TF binding region
NDUFS2	CpG island
ADAMTS4	CpG island
ENSG00000143222	chromatin interactions
ENSG00000158859	chromatin interactions
ENSG00000224985	chromatin interactions
ENSG00000268387	chromatin interactions
ENSG00000158864	chromatin interactions
ENSG00000143252	chromatin interactions
ENSG00000143256	chromatin interactions
ENSG00000158793	chromatin interactions
ENSG00000206921	chromatin interactions
ENSG00000235477	chromatin interactions
ENSG00000143258	chromatin interactions
ENSG00000158887	chromatin interactions
ENSG00000188931	chromatin interactions
ENSG00000263548	chromatin interactions
ENSG00000125520	chromatin interactions
ENSG00000158850	chromatin interactions
ENSG00000158769	chromatin interactions
ENSG00000143224	chromatin interactions
ENSG00000158882	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000273075	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370229251	chr1:161161851-161161852	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs374106325	chr1:161161858-161161859	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs3134667	chr1:161161898-161161899	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs143096816	chr1:161161899-161161900	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs550067062	chr1:161161908-161161909	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs376630100	chr1:161161916-161161917	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs116361265	chr1:161161933-161161934	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs370623177	chr1:161161946-161161947	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs570236275	chr1:161161952-161161953	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs370892564	chr1:161161975-161161976	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs374646080	chr1:161162004-161162005	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs537518142	chr1:161162013-161162014	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs35395819	chr1:161162017-161162018	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs368712273	chr1:161162053-161162054	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs368698059	chr1:161162082-161162083	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs548284574	chr1:161162096-161162097	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs149411602	chr1:161162097-161162098	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs76040723	chr1:161162127-161162128	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs553840385	chr1:161162130-161162131	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs577166007	chr1:161162151-161162152	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs7512012	chr1:161162173-161162174	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs576930662	chr1:161162203-161162204	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs41270043	chr1:161162227-161162228	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185888051	chr1:161162287-161162288	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs79024003	chr1:161162314-161162315	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs541693006	chr1:161162341-161162342	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs56758346	chr1:161162358-161162359	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190164178	chr1:161162400-161162401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs541018023	chr1:161162407-161162408	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs139600387	chr1:161162409-161162410	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs533413850	chr1:161162470-161162471	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs77569668	chr1:161162509-161162510	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs75712266	chr1:161162510-161162511	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs78949430	chr1:161162511-161162512	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs550474578	chr1:161162584-161162585	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs563698365	chr1:161162628-161162629	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs529477245	chr1:161162638-161162639	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs549343106	chr1:161162639-161162640	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs12738103	chr1:161162669-161162670	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533880021	chr1:161162670-161162671	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs35341959	chr1:161162696-161162697	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs115123744	chr1:161162708-161162709	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs570483418	chr1:161162795-161162796	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs539318201	chr1:161162809-161162810	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs183154679	chr1:161162850-161162851	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs576285512	chr1:161162853-161162854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs551173973	chr1:161162860-161162861	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs373332448	chr1:161162997-161162998	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs143851585	chr1:161163004-161163005	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs116198355	chr1:161163021-161163022	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	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
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD

Chromatin state (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161147800-161167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:161148200-161162400	Weak transcription	Liver	Liver
3	chr1:161148200-161162600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:161148400-161165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:161150600-161162000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:161156000-161162400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:161156000-161167600	Weak transcription	Fetal Heart	heart
11	chr1:161156200-161163000	Weak transcription	Thymus	Thymus
12	chr1:161156200-161163200	Weak transcription	NHDF-Ad	bronchial
13	chr1:161156200-161166200	Weak transcription	Fetal Lung	lung
14	chr1:161156400-161163600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:161156400-161166000	Weak transcription	Esophagus	oesophagus
16	chr1:161156600-161165200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:161157000-161162400	Weak transcription	Fetal Brain Female	brain
18	chr1:161157400-161162600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:161157400-161162600	Weak transcription	HepG2	liver
20	chr1:161157600-161162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:161157600-161164400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:161157600-161165000	Weak transcription	Right Atrium	heart
23	chr1:161157600-161167600	Weak transcription	Small Intestine	intestine
24	chr1:161157800-161162000	Weak transcription	K562	blood
25	chr1:161157800-161162400	Weak transcription	GM12878-XiMat	blood
26	chr1:161158800-161166000	Weak transcription	Pancreas	Pancrea
27	chr1:161159200-161162200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:161159400-161162000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:161159600-161162200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:161159600-161162200	Weak transcription	HUVEC	blood vessel
31	chr1:161159600-161162400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:161159600-161162400	Strong transcription	Fetal Stomach	stomach
33	chr1:161160200-161163000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:161160200-161163800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:161160200-161167000	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:161160200-161167400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:161160400-161162000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:161160400-161162200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:161160400-161162600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:161160400-161162600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:161160400-161162600	Strong transcription	Osteobl	bone
42	chr1:161160400-161164000	Strong transcription	NHLF	lung
43	chr1:161160400-161164400	Genic enhancers	Brain Hippocampus Middle	brain
44	chr1:161160400-161165400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:161160600-161162000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:161160600-161162000	Genic enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:161160600-161162600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:161160600-161163000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:161160600-161164000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:161160600-161165800	Enhancers	Primary T helper cells PMA-I stimulated	--

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