Variant report

Variant	esv3359129
Chromosome Location	chr7:27238452-27241300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:146)
CpG islands
(count:733)
Chromatin interactive
region (count:4)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:146 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:27239932-27239942	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr7:27239972-27240015	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr7:27239642-27240298	Hela-S3	cervix:	n/a	n/a
4	CREB1	chr7:27239286-27240202	A549	lung:	n/a	n/a
5	CTBP2	chr7:27239696-27240391	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr7:27238575-27239234	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:27239903-27239962	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:27240800-27240950	NB4	blood:	n/a	n/a
9	CTCF	chr7:27240760-27240910	AG09309	skin:	n/a	n/a
10	CTCF	chr7:27240800-27240950	GM06990	blood:	n/a	n/a
11	CTCF	chr7:27240820-27240970	AG10803	skin:	n/a	n/a
12	CTCF	chr7:27239620-27239770	Caco-2	colon:	n/a	n/a
13	CTCF	chr7:27240104-27240111	MCF-7	breast:	n/a	n/a
14	CTCF	chr7:27240760-27240910	AG09319	gingival:	n/a	n/a
15	CTCF	chr7:27240720-27240870	A549	lung:	n/a	n/a
16	CTCF	chr7:27240740-27240890	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:27240859-27240937	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:27240800-27240950	AG09319	gingival:	n/a	n/a
19	CTCF	chr7:27240780-27240930	AG10803	skin:	n/a	n/a
20	CTCF	chr7:27240820-27240970	HMF	breast:	n/a	n/a
21	CTCF	chr7:27240820-27240970	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr7:27240112-27240163	MCF-7	breast:	n/a	n/a
23	CTCF	chr7:27240834-27240957	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:27238940-27239090	AG04449	skin:	n/a	n/a
25	CTCF	chr7:27238960-27239110	HCT-116	colon:	n/a	n/a
26	CTCF	chr7:27240800-27240950	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr7:27239336-27239414	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:27238840-27238990	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr7:27238980-27239130	HEK293	kidney:	n/a	n/a
30	CTCF	chr7:27240855-27240944	NHEK	skin:	n/a	n/a
31	CTCF	chr7:27240880-27241030	GM12864	blood:	n/a	n/a
32	CTCF	chr7:27240780-27240930	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:27240760-27240910	Caco-2	colon:	n/a	n/a
34	CTCF	chr7:27240887-27240943	Fibrobl	skin:	n/a	n/a
35	CTCF	chr7:27238980-27239130	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr7:27240780-27240930	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr7:27240700-27240850	BJ	skin:	n/a	n/a
38	CTCF	chr7:27239560-27239710	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:27239901-27239975	MCF-7	breast:	n/a	n/a
40	E2F6	chr7:27238895-27239293	H1-hESC	embryonic stem cell:	n/a	chr7:27239019-27239034
41	E2F6	chr7:27239491-27240324	A549	lung:	n/a	chr7:27239849-27239858
42	E2F6	chr7:27238704-27239250	A549	lung:	n/a	chr7:27239019-27239034
43	EGR1	chr7:27239790-27239953	K562	blood:	n/a	chr7:27239838-27239848 chr7:27239845-27239855
44	ELK1	chr7:27238953-27238955	Hela-S3	cervix:	n/a	n/a
45	ELK1	chr7:27240263-27240463	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr7:27238822-27239271	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2F1	chr7:27240215-27240448	Hela-S3	cervix:	n/a	n/a
48	HA-E2F1	chr7:27239614-27240361	MCF-7	breast:	n/a	chr7:27239849-27239858
49	HA-E2F1	chr7:27238955-27240153	Hela-S3	cervix:	n/a	chr7:27239849-27239858
50	HMGN3	chr7:27238811-27238952	K562	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27239728-27239778	HNPCEpiC	eye:	n/a
2	chr7:27239728-27239778	HNPCEpiC	eye:	n/a
3	chr7:27239728-27239778	Caco-2	colon:	n/a
4	chr7:27240181-27240231	AG09319	gingival:	n/a
5	chr7:27240181-27240231	NHDF-neo	bronchial:	n/a
6	chr7:27239556-27239606	AG04450	lung:	fetal
7	chr7:27239728-27239778	SAEC	small airway:	n/a
8	chr7:27239024-27239074	HNPCEpiC	eye:	n/a
9	chr7:27239701-27239751	NH-A	brain:	n/a
10	chr7:27238910-27238960	HRCEpiC	kidney:	n/a
11	chr7:27240758-27240808	SKMC	muscle:	n/a
12	chr7:27239701-27239751	BE2_C	brain:	n/a
13	chr7:27239763-27239813	MCF-7	breast:	n/a
14	chr7:27238910-27238960	HUVEC	blood vessel:	n/a
15	chr7:27239556-27239606	NH-A	brain:	n/a
16	chr7:27241279-27241329	HepG2	liver:	n/a
17	chr7:27240758-27240808	AG04449	skin:	fetal
18	chr7:27239728-27239778	GM19239	blood:	n/a
19	chr7:27240251-27240301	A549	lung:	n/a
20	chr7:27240251-27240301	PFSK-1	brain:	n/a
21	chr7:27241279-27241329	HRE	kidney:	n/a
22	chr7:27240181-27240231	NT2-D1	testis:	n/a
23	chr7:27240251-27240301	ovcar-3	ovarian:	n/a
24	chr7:27239556-27239606	HCT-116	colon:	n/a
25	chr7:27240246-27240296	Jurkat	blood:	n/a
26	chr7:27240181-27240231	BE2_C	brain:	n/a
27	chr7:27239701-27239751	HepG2	liver:	n/a
28	chr7:27241203-27241253	HIPEpiC	eye:	n/a
29	chr7:27239728-27239778	A549	lung:	n/a
30	chr7:27239763-27239813	A549	lung:	n/a
31	chr7:27241279-27241329	HCPEpiC	choroid plexus:	n/a
32	chr7:27239701-27239751	SKMC	muscle:	n/a
33	chr7:27238910-27238960	HIPEpiC	eye:	n/a
34	chr7:27238910-27238960	BE2_C	brain:	n/a
35	chr7:27239728-27239778	HCT-116	colon:	n/a
36	chr7:27241203-27241253	HepG2	liver:	n/a
37	chr7:27240181-27240231	HAEpiC	amniotic membrane:	n/a
38	chr7:27239763-27239813	MCF10A-Er-Src	breast:	n/a
39	chr7:27240181-27240231	HNPCEpiC	eye:	n/a
40	chr7:27239728-27239778	PFSK-1	brain:	n/a
41	chr7:27239728-27239778	Hepatocyte	liver:	n/a
42	chr7:27239728-27239778	HAEpiC	amniotic membrane:	n/a
43	chr7:27241279-27241329	NHDF-neo	bronchial:	n/a
44	chr7:27240246-27240296	HEK293	kidney:	embryo
45	chr7:27240758-27240808	HAEpiC	amniotic membrane:	n/a
46	chr7:27240246-27240296	SK-N-MC	brain:	n/a
47	chr7:27240246-27240296	SK-N-SH	brain:	n/a
48	chr7:27238910-27238960	MCF-7	breast:	n/a
49	chr7:27239024-27239074	BJ	skin:	n/a
50	chr7:27241279-27241329	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27162022-27164727..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
2	chr7:27236687..27240147-chr7:27700482..27703881,4	MCF-7	breast:
3	chr7:27232082..27233586-chr7:27238989..27241639,2	MCF-7	breast:
4	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
2	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
3	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
4	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
5	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
6	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
7	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
8	lnc-EVX1-3	chr7:27240242-27242257	NR_037843
9	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
10	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
11	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
12	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
13	lnc-EVX1-3	chr7:27240040-27240140	NR_037843
14	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
15	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
16	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
17	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
18	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
19	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
20	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
21	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
22	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
23	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
24	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
25	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
26	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
27	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
28	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
29	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
30	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
31	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
32	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
33	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
34	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
35	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
36	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
37	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766

No data

Variant related genes	Relation type
HOTTIP	TF binding region
HOXA13	TF binding region
HOTTIP	CpG island
HOXA13	CpG island
ENSG00000106049	chromatin interactions
ENSG00000266055	chromatin interactions
ENSG00000214869	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000253508	chromatin interactions
HOXA13	lncRNA
HOXA11	lncRNA
HOXA10	lncRNA
HOXA7	lncRNA
HOXA9	lncRNA

Extended variants
information (count: 123 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79988965	chr7:27238454-27238455	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs530127624	chr7:27238466-27238467	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs550195290	chr7:27238525-27238526	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs35940334	chr7:27238532-27238533	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs569953293	chr7:27238581-27238582	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs538981525	chr7:27238584-27238585	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs111606303	chr7:27238602-27238603	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs552522740	chr7:27238637-27238638	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs552794674	chr7:27238646-27238647	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs568133680	chr7:27238647-27238648	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs113679804	chr7:27238652-27238653	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs35434022	chr7:27238680-27238681	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2071265	chr7:27238691-27238692	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554794886	chr7:27238692-27238693	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs574524470	chr7:27238700-27238701	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs535456407	chr7:27238718-27238719	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs556979601	chr7:27238723-27238724	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs369363884	chr7:27238727-27238728	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs576781785	chr7:27238733-27238734	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs151222178	chr7:27238736-27238737	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs565263915	chr7:27238737-27238738	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs369049596	chr7:27238762-27238763	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs200379258	chr7:27238782-27238783	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs183941484	chr7:27238800-27238801	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs373109184	chr7:27238806-27238807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs199871426	chr7:27238811-27238812	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs557028335	chr7:27238813-27238814	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs145935388	chr7:27238838-27238839	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs375188427	chr7:27238839-27238840	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs139880902	chr7:27238880-27238881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs369695419	chr7:27238892-27238893	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs61737504	chr7:27238913-27238914	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs373467073	chr7:27238920-27238921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs530267546	chr7:27238934-27238935	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs372907690	chr7:27238953-27238954	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs377551505	chr7:27238959-27238960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs370135691	chr7:27238992-27238993	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs1065462	chr7:27239010-27239011	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs201761598	chr7:27239013-27239014	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs41311757	chr7:27239029-27239030	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs139336802	chr7:27239035-27239036	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs576023654	chr7:27239051-27239052	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs373203644	chr7:27239053-27239054	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs150062376	chr7:27239056-27239057	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs35277569	chr7:27239064-27239065	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377071293	chr7:27239077-27239078	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs532430729	chr7:27239096-27239097	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs35255035	chr7:27239100-27239101	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs369862887	chr7:27239106-27239107	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs528394833	chr7:27239122-27239123	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27236400-27240200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
2	chr7:27236800-27238600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27237000-27239000	Bivalent/Poised TSS	Osteobl	bone
4	chr7:27237000-27240000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:27237200-27238600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:27237200-27238800	Bivalent/Poised TSS	Small Intestine	intestine
7	chr7:27237200-27239000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr7:27237200-27240400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:27237200-27240800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr7:27237400-27238600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:27237400-27238600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
12	chr7:27237400-27238600	Bivalent/Poised TSS	Placenta	Placenta
13	chr7:27237400-27238600	Active TSS	Right Atrium	heart
14	chr7:27237400-27239000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr7:27237400-27239000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:27237400-27240200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
17	chr7:27237600-27238600	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr7:27237600-27238800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr7:27237800-27238600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr7:27237800-27238600	Bivalent Enhancer	HUVEC	blood vessel
21	chr7:27237800-27238800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr7:27237800-27239000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:27237800-27239000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr7:27237800-27239600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr7:27237800-27239600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr7:27237800-27240000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr7:27238000-27238600	Bivalent Enhancer	Primary T cells from cord blood	blood
28	chr7:27238000-27238800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr7:27238000-27238800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:27238000-27238800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr7:27238000-27239000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:27238000-27239200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr7:27238000-27239200	Bivalent Enhancer	Lung	lung
34	chr7:27238000-27239200	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr7:27238000-27239600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:27238000-27240200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:27238200-27238600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr7:27238200-27238600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:27238200-27238600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:27238200-27238600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr7:27238200-27238600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr7:27238200-27238600	Bivalent Enhancer	HepG2	liver
43	chr7:27238200-27238800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:27238200-27239000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr7:27238200-27239000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr7:27238200-27239000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:27238200-27239000	Bivalent Enhancer	Esophagus	oesophagus
48	chr7:27238200-27239600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:27238200-27239600	Enhancers	Pancreas	Pancrea
50	chr7:27238200-27240000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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