Variant report

Variant	esv3411922
Chromosome Location	chr1:84542914-84544812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:460)
CpG islands
(count:611)
Chromatin interactive
region (count:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:84543380-84543588	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:84544449-84544500	HepG2	liver:	n/a	n/a
3	ATF3	chr1:84543471-84543757	K562	blood:	n/a	chr1:84543641-84543650 chr1:84543645-84543654 chr1:84543690-84543699 chr1:84543605-84543614 chr1:84543554-84543574
4	ATF3	chr1:84543513-84543717	H1-hESC	embryonic stem cell:	n/a	chr1:84543641-84543650 chr1:84543645-84543654 chr1:84543690-84543699 chr1:84543605-84543614 chr1:84543554-84543574
5	BACH1	chr1:84544537-84544708	K562	blood:	n/a	n/a
6	BACH1	chr1:84543125-84543656	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr1:84543200-84543635	A549	lung:	n/a	chr1:84543570-84543579
8	BCL3	chr1:84543469-84543767	GM12878	blood:	n/a	chr1:84543694-84543707 chr1:84543570-84543579 chr1:84543635-84543644
9	BCLAF1	chr1:84543128-84543608	GM12878	blood:	n/a	chr1:84543570-84543579
10	BHLHE40	chr1:84543041-84543667	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:84543976-84544360	K562	blood:	n/a	n/a
12	BHLHE40	chr1:84543122-84543669	K562	blood:	n/a	n/a
13	BRCA1	chr1:84543387-84543473	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr1:84542671-84544001	Hela-S3	cervix:	n/a	chr1:84543052-84543059
15	CBX3	chr1:84543011-84543657	K562	blood:	n/a	n/a
16	CCNT2	chr1:84543165-84544195	K562	blood:	n/a	chr1:84543960-84543969
17	CEBPB	chr1:84542988-84544028	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr1:84543330-84543772	HepG2	liver:	n/a	n/a
19	CHD1	chr1:84543358-84543587	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr1:84542946-84543127	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr1:84543918-84544576	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr1:84543121-84543425	K562	blood:	n/a	n/a
23	CHD2	chr1:84543339-84543660	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr1:84543323-84543545	HepG2	liver:	n/a	n/a
25	CHD2	chr1:84543084-84544560	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr1:84543042-84544114	HepG2	liver:	n/a	n/a
27	CREB1	chr1:84543083-84543993	HepG2	liver:	n/a	n/a
28	CREB1	chr1:84543442-84543722	A549	lung:	n/a	n/a
29	CREB1	chr1:84542957-84543966	K562	blood:	n/a	n/a
30	CREB1	chr1:84543215-84543897	A549	lung:	n/a	n/a
31	CREB1	chr1:84543007-84544063	GM12878	blood:	n/a	n/a
32	CREB1	chr1:84543023-84544014	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr1:84543360-84543852	ECC-1	luminal epithelium:	n/a	n/a
34	CREB1	chr1:84543166-84543932	K562	blood:	n/a	n/a
35	CREB1	chr1:84543082-84544252	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTBP2	chr1:84543178-84544544	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:84543300-84543450	AG04450	lung:	n/a	n/a
38	CTCF	chr1:84543120-84543390	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr1:84543420-84543570	K562	blood:	n/a	n/a
40	CTCF	chr1:84543280-84543430	GM12869	blood:	n/a	n/a
41	CTCF	chr1:84543120-84543270	HVMF	connective:	n/a	n/a
42	CTCF	chr1:84543960-84544110	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr1:84543400-84543550	NHEK	skin:	n/a	n/a
44	CTCF	chr1:84543360-84543510	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr1:84543340-84543490	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr1:84543320-84543470	HEK293	kidney:	n/a	n/a
47	CTCF	chr1:84543340-84543490	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr1:84543340-84543490	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr1:84543311-84543432	GM19238	blood:	n/a	n/a
50	CTCF	chr1:84543497-84543501	GM12891	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:84543156-84543206	SAEC	small airway:	n/a
2	chr1:84543156-84543206	SAEC	small airway:	n/a
3	chr1:84543558-84543608	HRCEpiC	kidney:	n/a
4	chr1:84543951-84544001	BJ	skin:	n/a
5	chr1:84543551-84543601	SKMC	muscle:	n/a
6	chr1:84543374-84543424	HCF	heart:	n/a
7	chr1:84543539-84543589	BE2_C	brain:	n/a
8	chr1:84543551-84543601	HIPEpiC	eye:	n/a
9	chr1:84543951-84544001	HepG2	liver:	n/a
10	chr1:84543369-84543419	ovcar-3	ovarian:	n/a
11	chr1:84544097-84544147	GM19239	blood:	n/a
12	chr1:84544097-84544147	HCM	heart:	n/a
13	chr1:84543539-84543589	NH-A	brain:	n/a
14	chr1:84544220-84544270	HIPEpiC	eye:	n/a
15	chr1:84543156-84543206	NT2-D1	testis:	n/a
16	chr1:84543551-84543601	ovcar-3	ovarian:	n/a
17	chr1:84543374-84543424	HCM	heart:	n/a
18	chr1:84544097-84544147	GM12891	blood:	n/a
19	chr1:84543539-84543589	RPTEC	kidney:	n/a
20	chr1:84543558-84543608	HUVEC	blood vessel:	n/a
21	chr1:84543558-84543608	Jurkat	blood:	n/a
22	chr1:84544220-84544270	HRE	kidney:	n/a
23	chr1:84543374-84543424	HRPEpiC	eye:	n/a
24	chr1:84544284-84544334	HEK293	kidney:	embryo
25	chr1:84543558-84543608	HIPEpiC	eye:	n/a
26	chr1:84543551-84543601	NHBE	bronchial:	n/a
27	chr1:84544220-84544270	A549	lung:	n/a
28	chr1:84543369-84543419	SK-N-SH	brain:	n/a
29	chr1:84544220-84544270	AG09319	gingival:	n/a
30	chr1:84544284-84544334	K562	blood:	n/a
31	chr1:84543369-84543419	AG09309	skin:	n/a
32	chr1:84543551-84543601	IMR90	lung:	fetal
33	chr1:84543951-84544001	Caco-2	colon:	n/a
34	chr1:84543156-84543206	HL-60	blood:	n/a
35	chr1:84544097-84544147	ECC-1	luminal epithelium:	n/a
36	chr1:84543369-84543419	GM19239	blood:	n/a
37	chr1:84544220-84544270	HepG2	liver:	n/a
38	chr1:84543551-84543601	HL-60	blood:	n/a
39	chr1:84543369-84543419	SAEC	small airway:	n/a
40	chr1:84543369-84543419	HCF	heart:	n/a
41	chr1:84543551-84543601	AG10803	skin:	n/a
42	chr1:84544284-84544334	ProgFib	skin:	n/a
43	chr1:84543374-84543424	HCPEpiC	choroid plexus:	n/a
44	chr1:84544097-84544147	Hela-S3	cervix:	n/a
45	chr1:84543551-84543601	GM06990	blood:	n/a
46	chr1:84544284-84544334	HRPEpiC	eye:	n/a
47	chr1:84543539-84543589	NHDF-neo	bronchial:	n/a
48	chr1:84543539-84543589	HAEpiC	amniotic membrane:	n/a
49	chr1:84543539-84543589	HepG2	liver:	n/a
50	chr1:84544284-84544334	GM12892	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84377090..84379247-chr1:84542414..84544902,2	K562	blood:
2	chr1:84543365..84543953-chr2:136633448..136634387,2	Hela-S3	cervix:
3	chr1:84463410..84466364-chr1:84542152..84546505,5	K562	blood:
4	chr1:84543517..84544097-chr5:34915086..34915845,2	Hela-S3	cervix:
5	chr1:84541598..84548799-chr1:84549003..84554628,15	K562	blood:
6	chr1:84543836..84545852-chr1:84545884..84547709,2	K562	blood:
7	chr1:84387778..84389882-chr1:84541236..84543359,2	K562	blood:
8	chr1:84540590..84543508-chr1:84558962..84560991,2	K562	blood:
9	chr1:84543599..84544134-chr11:62648019..62648854,2	Hela-S3	cervix:
10	chr1:84542977..84543701-chr9:140135375..140136244,2	Hela-S3	cervix:
11	chr1:84543103..84544767-chr1:84969541..84972530,2	K562	blood:
12	chr1:84541371..84543109-chr1:84583953..84586517,2	K562	blood:
13	chr1:84543429..84544009-chr3:122233490..122234112,2	Hela-S3	cervix:
14	chr1:84540791..84543154-chr1:84633401..84635166,2	K562	blood:
15	chr1:84542759..84543477-chr10:17272146..17272948,2	Hela-S3	cervix:
16	chr1:84542242..84543745-chr1:85154770..85157524,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTLL7-3	chr1:84543564-84543595	XLOC_000889
2	lnc-TTLL7-3	chr1:84542062-84543325	XLOC_000889
3	lnc-TTLL7-3	chr1:84542014-84543614	ENSG00000271576.1
4	lnc-TTLL7-3	chr1:84542014-84543655	NONHSAT004184

No data

Variant related genes	Relation type
ENSG00000271576	TF binding region
PRKACB	TF binding region
ENSG00000271576	CpG island
PRKACB	CpG island
ENSG00000113456	chromatin interactions
ENSG00000117155	chromatin interactions
ENSG00000174021	chromatin interactions
ENSG00000113460	chromatin interactions
ENSG00000213540	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000137941	chromatin interactions
ENSG00000114030	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000026025	chromatin interactions
ENSG00000076003	chromatin interactions
ENSG00000122432	chromatin interactions
FBXO28	miRNA target sites
ARHGAP12	miRNA target sites

Extended variants
information (count: 62 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201796670	chr1:84542924-84542925	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs557900937	chr1:84543013-84543014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs577948608	chr1:84543030-84543031	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs537023616	chr1:84543037-84543038	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs113000500	chr1:84543133-84543134	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
6	rs142488934	chr1:84543163-84543164	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs542860112	chr1:84543173-84543174	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs189107748	chr1:84543219-84543220	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs12075911	chr1:84543276-84543277	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181288161	chr1:84543315-84543316	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs573235178	chr1:84543349-84543350	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs144871703	chr1:84543391-84543392	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs545658974	chr1:84543396-84543397	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
14	rs147110848	chr1:84543402-84543403	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs376324870	chr1:84543406-84543407	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs186527143	chr1:84543422-84543423	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs55768575	chr1:84543442-84543443	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs145755787	chr1:84543448-84543449	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs116107988	chr1:84543453-84543454	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
20	rs550265554	chr1:84543462-84543463	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
21	rs560970960	chr1:84543469-84543470	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
22	rs529813505	chr1:84543474-84543475	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
23	rs6576958	chr1:84543544-84543545	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs6576959	chr1:84543546-84543547	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538963756	chr1:84543577-84543578	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs552467245	chr1:84543598-84543599	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs569024062	chr1:84543628-84543629	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
28	rs112088436	chr1:84543643-84543644	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
29	rs537455363	chr1:84543659-84543660	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs557073820	chr1:84543677-84543678	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs573836483	chr1:84543725-84543726	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs542499121	chr1:84543762-84543763	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs555766497	chr1:84543781-84543782	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs112683800	chr1:84543879-84543880	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs573120992	chr1:84543896-84543897	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs545235299	chr1:84543948-84543949	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs199581787	chr1:84543970-84543971	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs201535952	chr1:84544027-84544028	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs374074850	chr1:84544080-84544081	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs199536324	chr1:84544083-84544084	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs544244951	chr1:84544103-84544104	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs560860766	chr1:84544111-84544112	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs529853135	chr1:84544202-84544203	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs190952328	chr1:84544223-84544224	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs560261966	chr1:84544244-84544245	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs148963792	chr1:84544329-84544330	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs181019034	chr1:84544331-84544332	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs569178310	chr1:84544370-84544371	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs369293573	chr1:84544375-84544376	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs536626926	chr1:84544378-84544379	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84542000-84544600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:84542000-84544800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:84542000-84545200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:84542200-84543000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:84542400-84543000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:84542400-84543000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:84542400-84543000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:84542400-84543000	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:84542400-84543000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:84542400-84543000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:84542400-84543000	Enhancers	Adipose Nuclei	Adipose
12	chr1:84542400-84543000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr1:84542400-84543000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:84542400-84543000	Flanking Active TSS	Fetal Brain Male	brain
15	chr1:84542400-84543000	Flanking Active TSS	Fetal Heart	heart
16	chr1:84542400-84543000	Flanking Active TSS	Fetal Lung	lung
17	chr1:84542400-84543200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:84542400-84543200	Flanking Active TSS	Dnd41	blood
19	chr1:84542400-84543200	Flanking Active TSS	GM12878-XiMat	blood
20	chr1:84542400-84543400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:84542400-84543400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:84542400-84544400	Active TSS	HMEC	breast
23	chr1:84542400-84544600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:84542400-84544600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:84542400-84544600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:84542400-84544600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:84542400-84544800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr1:84542400-84544800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:84542400-84544800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:84542400-84544800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:84542400-84545000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:84542400-84545000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:84542600-84543000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:84542600-84543000	Enhancers	Brain Substantia Nigra	brain
35	chr1:84542600-84543200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:84542600-84543200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr1:84542600-84543200	Flanking Active TSS	Fetal Brain Female	brain
38	chr1:84542600-84543200	Flanking Active TSS	HUVEC	blood vessel
39	chr1:84542600-84543400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:84542600-84544200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:84542600-84544400	Active TSS	Brain Anterior Caudate	brain
42	chr1:84542600-84544400	Active TSS	Fetal Muscle Leg	muscle
43	chr1:84542600-84544400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:84542600-84544400	Active TSS	K562	blood
45	chr1:84542600-84544400	Active TSS	Osteobl	bone
46	chr1:84542600-84544800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:84542600-84544800	Active TSS	A549	lung
48	chr1:84542600-84545000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:84542600-84545000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:84542600-84545000	Active TSS	Brain Cingulate Gyrus	brain

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