Variant report

Variant	esv3437143
Chromosome Location	chr1:95006189-95008737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:373)
CpG islands
(count:1038)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:95006245-95006874	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:95007441-95007657	HepG2	liver:	n/a	n/a
3	ATF3	chr1:95007381-95007616	K562	blood:	n/a	n/a
4	ATF3	chr1:95007406-95007641	HepG2	liver:	n/a	n/a
5	ATF3	chr1:95007409-95007615	K562	blood:	n/a	n/a
6	BACH1	chr1:95006990-95008182	H1-hESC	embryonic stem cell:	n/a	chr1:95007515-95007529
7	BHLHE40	chr1:95006511-95006916	HepG2	liver:	n/a	n/a
8	BRCA1	chr1:95007079-95007218	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr1:95007075-95007604	K562	blood:	n/a	n/a
10	CEBPB	chr1:95008575-95009059	Hela-S3	cervix:	n/a	chr1:95008723-95008734
11	CEBPB	chr1:95006666-95006983	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:95007459-95007657	HepG2	liver:	n/a	n/a
13	CEBPB	chr1:95006661-95006947	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr1:95007389-95007702	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:95008570-95008904	IMR90	lung:	n/a	chr1:95008723-95008734
16	CEBPB	chr1:95006626-95007014	A549	lung:	n/a	n/a
17	CEBPB	chr1:95006439-95008044	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr1:95007101-95007667	HepG2	liver:	n/a	n/a
19	CHD1	chr1:94994939-95011321	IMR90	lung:	n/a	n/a
20	CHD2	chr1:95007468-95007533	HepG2	liver:	n/a	n/a
21	CHD2	chr1:95006578-95007853	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr1:95006728-95006895	HepG2	liver:	n/a	n/a
23	CHD2	chr1:95007122-95007258	HepG2	liver:	n/a	n/a
24	CREB1	chr1:95007353-95007719	A549	lung:	n/a	n/a
25	CTBP2	chr1:95006573-95008179	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:95007120-95007270	HCFaa	heart:	n/a	n/a
27	CTCF	chr1:95007154-95007293	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr1:95007094-95007261	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr1:95007119-95007246	ProgFib	skin:	n/a	n/a
30	CTCF	chr1:95007120-95007270	BJ	skin:	n/a	n/a
31	CTCF	chr1:95007100-95007250	GM12871	blood:	n/a	n/a
32	CTCF	chr1:95007200-95007350	HEK293	kidney:	n/a	n/a
33	CTCF	chr1:95007120-95007270	GM12864	blood:	n/a	n/a
34	CTCF	chr1:95008480-95008630	NHLF	lung:	n/a	n/a
35	CTCF	chr1:95007120-95007270	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr1:95007151-95007219	GM10266	blood:	n/a	n/a
37	CTCF	chr1:95007180-95007330	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr1:95007120-95007270	GM12868	blood:	n/a	n/a
39	CTCF	chr1:95007160-95007310	HVMF	connective:	n/a	n/a
40	CTCF	chr1:95007120-95007270	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr1:95007080-95007230	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr1:95007113-95007281	Fibrobl	skin:	n/a	n/a
43	CTCF	chr1:95007164-95007236	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr1:95007135-95007256	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:95007180-95007330	BJ	skin:	n/a	n/a
46	CTCF	chr1:95007000-95007150	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr1:95007060-95007210	HMEC	breast:	n/a	n/a
48	CTCF	chr1:95007140-95007290	AG10803	skin:	n/a	n/a
49	CTCF	chr1:95007180-95007330	WI-38	lung:	n/a	n/a
50	CTCF	chr1:95007480-95007630	BJ	skin:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95006838-95006888	HEK293	kidney:	embryo
2	chr1:95006838-95006888	HEK293	kidney:	embryo
3	chr1:95008041-95008091	A549	lung:	n/a
4	chr1:95006539-95006589	U87	brain:	n/a
5	chr1:95006539-95006589	AG09309	skin:	n/a
6	chr1:95006977-95007027	HCM	heart:	n/a
7	chr1:95007331-95007381	NHDF-neo	bronchial:	n/a
8	chr1:95007541-95007591	MCF10A-Er-Src	breast:	n/a
9	chr1:95006451-95006501	ovcar-3	ovarian:	n/a
10	chr1:95006729-95006779	SK-N-SH_RA	brain:	n/a
11	chr1:95007502-95007552	AG09309	skin:	n/a
12	chr1:95006539-95006589	LNCaP	prostate:	n/a
13	chr1:95007593-95007643	GM12892	blood:	n/a
14	chr1:95007543-95007593	AG10803	skin:	n/a
15	chr1:95007502-95007552	PrEC	prostate:	n/a
16	chr1:95006451-95006501	HEK293	kidney:	embryo
17	chr1:95007502-95007552	GM19239	blood:	n/a
18	chr1:95008050-95008100	HUVEC	blood vessel:	n/a
19	chr1:95007331-95007381	HCPEpiC	choroid plexus:	n/a
20	chr1:95007331-95007381	HNPCEpiC	eye:	n/a
21	chr1:95007331-95007381	ProgFib	skin:	n/a
22	chr1:95007573-95007623	GM12892	blood:	n/a
23	chr1:95008050-95008100	PFSK-1	brain:	n/a
24	chr1:95007331-95007381	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:95006539-95006589	HMEC	breast:	n/a
26	chr1:95007502-95007552	HL-60	blood:	n/a
27	chr1:95006977-95007027	NHBE	bronchial:	n/a
28	chr1:95007502-95007552	GM12892	blood:	n/a
29	chr1:95007489-95007539	ProgFib	skin:	n/a
30	chr1:95006322-95006372	AG09309	skin:	n/a
31	chr1:95006977-95007027	CMK	blood:	n/a
32	chr1:95007502-95007552	HRCEpiC	kidney:	n/a
33	chr1:95006539-95006589	MCF-7	breast:	n/a
34	chr1:95007543-95007593	BE2_C	brain:	n/a
35	chr1:95007502-95007552	Jurkat	blood:	n/a
36	chr1:95006729-95006779	Caco-2	colon:	n/a
37	chr1:95007541-95007591	AG09309	skin:	n/a
38	chr1:95006539-95006589	HRPEpiC	eye:	n/a
39	chr1:95006322-95006372	HMEC	breast:	n/a
40	chr1:95007489-95007539	PrEC	prostate:	n/a
41	chr1:95007541-95007591	A549	lung:	n/a
42	chr1:95007543-95007593	ProgFib	skin:	n/a
43	chr1:95006451-95006501	AG09309	skin:	n/a
44	chr1:95007543-95007593	Caco-2	colon:	n/a
45	chr1:95008041-95008091	Jurkat	blood:	n/a
46	chr1:95006977-95007027	U87	brain:	n/a
47	chr1:95006977-95007027	NH-A	brain:	n/a
48	chr1:95008041-95008091	PFSK-1	brain:	n/a
49	chr1:95006838-95006888	AG04449	skin:	fetal
50	chr1:95006977-95007027	Hepatocyte	liver:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95007807..95010747-chr1:95056056..95057592,2	MCF-7	breast:
2	chr1:95001173..95003691-chr1:95006398..95009153,2	MCF-7	breast:
3	chr1:95006856..95007717-chr15:75932354..75933289,2	NB4	blood:
4	chr1:95004121..95007110-chr1:95017554..95021316,3	MCF-7	breast:
5	chr1:95007807..95010270-chr1:95025313..95026976,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD3-1	chr1:95007608-95007649	XLOC_000302
2	lnc-ABCD3-1	chr1:95007516-95008786	NONHSAT004594
3	lnc-ABCD3-1	chr1:95008015-95008571	XLOC_000302

No data

Variant related genes	Relation type
F3	TF binding region
F3	CpG island
ENSG00000117525	chromatin interactions
ENSG00000177971	chromatin interactions
ERBB2IP	miRNA target sites
ERBB3	miRNA target sites

Extended variants
information (count: 79 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553427949	chr1:95006206-95006207	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs573517275	chr1:95006218-95006219	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs3917603	chr1:95006250-95006251	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs556426588	chr1:95006281-95006282	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559501672	chr1:95006293-95006294	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149139917	chr1:95006374-95006375	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs545280993	chr1:95006406-95006407	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565316215	chr1:95006459-95006460	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs143380356	chr1:95006549-95006550	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527854816	chr1:95006597-95006598	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541561512	chr1:95006614-95006615	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561330277	chr1:95006662-95006663	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530325071	chr1:95006676-95006677	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550056808	chr1:95006713-95006714	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139367309	chr1:95006749-95006750	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532734315	chr1:95006751-95006752	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186793015	chr1:95006797-95006798	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570937286	chr1:95006847-95006848	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533516524	chr1:95006855-95006856	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553460626	chr1:95006865-95006866	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191801790	chr1:95006888-95006889	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs116174653	chr1:95006931-95006932	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184093564	chr1:95007008-95007009	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576173705	chr1:95007013-95007014	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545005692	chr1:95007030-95007031	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369820653	chr1:95007081-95007082	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs199648767	chr1:95007094-95007095	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372898545	chr1:95007125-95007126	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369970949	chr1:95007170-95007171	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374056231	chr1:95007171-95007172	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572490287	chr1:95007244-95007245	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541393932	chr1:95007249-95007250	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs117977816	chr1:95007261-95007262	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs530178458	chr1:95007293-95007294	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs11554414	chr1:95007300-95007301	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs376235835	chr1:95007308-95007309	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs563763767	chr1:95007336-95007337	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563995834	chr1:95007364-95007365	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs532715646	chr1:95007444-95007445	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs552472643	chr1:95007455-95007456	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs565993679	chr1:95007567-95007568	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs527294851	chr1:95007627-95007628	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs530314483	chr1:95007673-95007674	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs191582133	chr1:95007683-95007684	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs3761953	chr1:95007731-95007732	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs569668714	chr1:95007757-95007758	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs546365766	chr1:95007790-95007791	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs958292	chr1:95007811-95007812	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs371017121	chr1:95007830-95007831	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs556204026	chr1:95007902-95007903	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:94986000-95006200	Weak transcription	Liver	Liver
3	chr1:94994600-95006200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:94995200-95006200	Weak transcription	Spleen	Spleen
5	chr1:95001200-95006400	Weak transcription	Small Intestine	intestine
6	chr1:95001400-95006600	Transcr. at gene 5' and 3'	HMEC	breast
7	chr1:95001600-95006200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:95001600-95007400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:95001600-95007800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:95001800-95006200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:95001800-95007000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:95001800-95007800	Active TSS	Brain Hippocampus Middle	brain
13	chr1:95002000-95006200	Weak transcription	Aorta	Aorta
14	chr1:95002400-95006600	Transcr. at gene 5' and 3'	NHLF	lung
15	chr1:95002600-95006600	Active TSS	Fetal Brain Female	brain
16	chr1:95002800-95006800	Transcr. at gene 5' and 3'	NHEK	skin
17	chr1:95002800-95007200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:95002800-95007600	Active TSS	Brain Anterior Caudate	brain
19	chr1:95003000-95007800	Active TSS	Right Atrium	heart
20	chr1:95003000-95008400	Active TSS	Brain Angular Gyrus	brain
21	chr1:95003200-95006400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:95003200-95007800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:95003200-95007800	Active TSS	Fetal Intestine Large	intestine
24	chr1:95003800-95007600	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:95003800-95007800	Active TSS	Brain Cingulate Gyrus	brain
26	chr1:95004000-95006800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:95004200-95006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:95004200-95006800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:95004200-95008800	Active TSS	Ovary	ovary
30	chr1:95004400-95006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:95004400-95006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:95004400-95006200	Active TSS	Osteobl	bone
33	chr1:95004400-95006400	Active TSS	Brain Germinal Matrix	brain
34	chr1:95004400-95006400	Active TSS	Placenta	Placenta
35	chr1:95004400-95007800	Active TSS	Left Ventricle	heart
36	chr1:95004400-95007800	Active TSS	Right Ventricle	heart
37	chr1:95004400-95007800	Active TSS	NH-A	brain
38	chr1:95004400-95008200	Active TSS	Pancreas	Pancrea
39	chr1:95004600-95006400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:95004600-95006400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:95004600-95007800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:95004800-95006800	Bivalent/Poised TSS	Thymus	Thymus
43	chr1:95004800-95007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:95004800-95007800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:95005000-95006200	Active TSS	Fetal Stomach	stomach
46	chr1:95005000-95006200	Enhancers	Dnd41	blood
47	chr1:95005000-95006400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:95005200-95006200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:95005200-95006200	Active TSS	HSMM	muscle
50	chr1:95005400-95006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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