Variant report

Variant	esv3321815
Chromosome Location	chr2:96010750-96013598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:465)
CpG islands
(count:610)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:465 , 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	chr2:96011241-96011589	HepG2	liver:	n/a	n/a
2	BACH1	chr2:96011193-96011935	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:96012738-96012872	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:96011313-96011814	K562	blood:	n/a	n/a
5	BCL3	chr2:96011091-96011806	A549	lung:	n/a	chr2:96011397-96011410 chr2:96011396-96011409 chr2:96011716-96011729 chr2:96011717-96011726 chr2:96011718-96011731
6	BHLHE40	chr2:96012014-96012349	K562	blood:	n/a	chr2:96012036-96012052 chr2:96012314-96012330
7	BHLHE40	chr2:96011334-96011509	GM12878	blood:	n/a	chr2:96011441-96011457
8	BHLHE40	chr2:96011260-96011762	K562	blood:	n/a	chr2:96011441-96011457 chr2:96011711-96011727
9	BRCA1	chr2:96011347-96011539	HepG2	liver:	n/a	n/a
10	BRCA1	chr2:96011348-96011572	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr2:96011350-96011591	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr2:96011295-96011634	K562	blood:	n/a	n/a
13	CCNT2	chr2:96011206-96012770	K562	blood:	n/a	chr2:96012075-96012084
14	CEBPB	chr2:96011346-96011536	K562	blood:	n/a	n/a
15	CEBPB	chr2:96011667-96011725	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:96011221-96011511	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr2:96011396-96011653	HepG2	liver:	n/a	n/a
18	CHD2	chr2:96011345-96011664	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr2:96012864-96012917	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr2:96011237-96011868	K562	blood:	n/a	n/a
21	CHD2	chr2:96011337-96011694	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr2:96012060-96012349	A549	lung:	n/a	n/a
23	CREB1	chr2:96011153-96011749	A549	lung:	n/a	n/a
24	CTCF	chr2:96011420-96011570	HAc	cerebellar:	n/a	chr2:96011445-96011458
25	CTCF	chr2:96011307-96011677	MCF-7	breast:	n/a	chr2:96011445-96011458
26	CTCF	chr2:96011360-96011510	GM12866	blood:	n/a	chr2:96011445-96011458
27	CTCF	chr2:96011756-96011771	GM19238	blood:	n/a	n/a
28	CTCF	chr2:96011400-96011550	HRE	kidney:	n/a	chr2:96011445-96011458
29	CTCF	chr2:96011293-96011591	A549	lung:	n/a	chr2:96011445-96011458
30	CTCF	chr2:96011080-96011230	AoAF	blood vessel:	n/a	chr2:96011142-96011155
31	CTCF	chr2:96011259-96011570	H1-hESC	embryonic stem cell:	n/a	chr2:96011445-96011458
32	CTCF	chr2:96011360-96011510	AoAF	blood vessel:	n/a	chr2:96011445-96011458
33	CTCF	chr2:96011440-96011590	HCT-116	colon:	n/a	chr2:96011445-96011458
34	CTCF	chr2:96011400-96011550	GM12871	blood:	n/a	chr2:96011445-96011458
35	CTCF	chr2:96010600-96010750	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr2:96010980-96011130	NB4	blood:	n/a	n/a
37	CTCF	chr2:96011360-96011510	HMF	breast:	n/a	chr2:96011445-96011458
38	CTCF	chr2:96011360-96011510	HPF	lung:	n/a	chr2:96011445-96011458
39	CTCF	chr2:96011380-96011530	MCF-7	breast:	n/a	chr2:96011445-96011458
40	CTCF	chr2:96011229-96011664	GM12878	blood:	n/a	chr2:96011445-96011458
41	CTCF	chr2:96011360-96011510	HCPEpiC	choroid plexus:	n/a	chr2:96011445-96011458
42	CTCF	chr2:96011340-96011490	GM12870	blood:	n/a	chr2:96011445-96011458
43	CTCF	chr2:96011703-96011770	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr2:96011300-96011450	WI-38	lung:	n/a	n/a
45	CTCF	chr2:96011340-96011490	HFF-Myc	foreskin:	n/a	chr2:96011445-96011458
46	CTCF	chr2:96011420-96011570	GM12868	blood:	n/a	chr2:96011445-96011458
47	CTCF	chr2:96011326-96011554	Lung_OC	lung:	n/a	chr2:96011445-96011458
48	CTCF	chr2:96011315-96011582	Medullo	brain:	n/a	chr2:96011445-96011458
49	CTCF	chr2:96011207-96011747	MCF-7	breast:	n/a	chr2:96011445-96011458
50	CTCF	chr2:96011311-96011577	Hela-S3	cervix:	n/a	chr2:96011445-96011458

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96013196-96013246	ovcar-3	ovarian:	n/a
2	chr2:96011964-96012014	Hela-S3	cervix:	n/a
3	chr2:96012328-96012378	GM12891	blood:	n/a
4	chr2:96012595-96012645	PANC-1	pancreas:	n/a
5	chr2:96012592-96012642	H1-hESC	embryonic stem cell:	embryo
6	chr2:96011321-96011371	NT2-D1	testis:	n/a
7	chr2:96012328-96012378	T-47D	breast:	n/a
8	chr2:96012592-96012642	GM12891	blood:	n/a
9	chr2:96012328-96012378	AG09319	gingival:	n/a
10	chr2:96011321-96011371	SKMC	muscle:	n/a
11	chr2:96012803-96012853	AG09309	skin:	n/a
12	chr2:96012592-96012642	AG09309	skin:	n/a
13	chr2:96013196-96013246	T-47D	breast:	n/a
14	chr2:96011964-96012014	BE2_C	brain:	n/a
15	chr2:96011321-96011371	PrEC	prostate:	n/a
16	chr2:96013196-96013246	PANC-1	pancreas:	n/a
17	chr2:96012735-96012785	HMEC	breast:	n/a
18	chr2:96011964-96012014	NT2-D1	testis:	n/a
19	chr2:96011321-96011371	GM12892	blood:	n/a
20	chr2:96012592-96012642	SKMC	muscle:	n/a
21	chr2:96011915-96011965	HepG2	liver:	n/a
22	chr2:96012595-96012645	HCT-116	colon:	n/a
23	chr2:96011321-96011371	T-47D	breast:	n/a
24	chr2:96011321-96011371	AG09309	skin:	n/a
25	chr2:96013196-96013246	H1-hESC	embryonic stem cell:	embryo
26	chr2:96012586-96012636	GM12878	blood:	n/a
27	chr2:96012592-96012642	HCF	heart:	n/a
28	chr2:96012595-96012645	GM06990	blood:	n/a
29	chr2:96012803-96012853	SK-N-SH_RA	brain:	n/a
30	chr2:96011964-96012014	SKMC	muscle:	n/a
31	chr2:96012735-96012785	HRE	kidney:	n/a
32	chr2:96011321-96011371	HAEpiC	amniotic membrane:	n/a
33	chr2:96012328-96012378	HUVEC	blood vessel:	n/a
34	chr2:96012586-96012636	SK-N-MC	brain:	n/a
35	chr2:96012803-96012853	PANC-1	pancreas:	n/a
36	chr2:96012592-96012642	GM06990	blood:	n/a
37	chr2:96011915-96011965	NB4	blood:	n/a
38	chr2:96012735-96012785	K562	blood:	n/a
39	chr2:96013196-96013246	HIPEpiC	eye:	n/a
40	chr2:96013196-96013246	RPTEC	kidney:	n/a
41	chr2:96011321-96011371	RPTEC	kidney:	n/a
42	chr2:96012735-96012785	HCPEpiC	choroid plexus:	n/a
43	chr2:96012586-96012636	NB4	blood:	n/a
44	chr2:96013196-96013246	NHDF-neo	bronchial:	n/a
45	chr2:96012586-96012636	ProgFib	skin:	n/a
46	chr2:96012595-96012645	AG04450	lung:	fetal
47	chr2:96012586-96012636	AG04449	skin:	fetal
48	chr2:96011321-96011371	HepG2	liver:	n/a
49	chr2:96011964-96012014	U87	brain:	n/a
50	chr2:96011321-96011371	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:96009340..96011395-chr2:96014535..96017221,2	K562	blood:
2	chr2:96011035..96011867-chr2:96054738..96055589,3	MCF-7	breast:
3	chr2:95831424..95833102-chr2:96012448..96013993,2	MCF-7	breast:
4	chr2:95995977..95996824-chr2:96011072..96011837,2	MCF-7	breast:
5	chr18:12883923..12884448-chr2:96011969..96012489,2	Hela-S3	cervix:
6	chr2:95926758..95928320-chr2:96008890..96011843,2	K562	blood:
7	chr2:95993761..95997355-chr2:96009051..96012049,3	K562	blood:
8	chr2:95988885..95989833-chr2:96011018..96011890,3	MCF-7	breast:
9	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:
10	chr2:95936957..95940788-chr2:96009231..96012475,5	MCF-7	breast:
11	chr2:95791411..95794237-chr2:96013125..96014933,3	K562	blood:
12	chr2:95989028..95989730-chr2:96011177..96011785,3	MCF-7	breast:
13	chr2:96012877..96014896-chr2:96015583..96018073,2	MCF-7	breast:
14	chr2:95988846..95989673-chr2:96011074..96011939,2	K562	blood:
15	chr2:96011050..96011912-chr2:96394384..96395342,2	MCF-7	breast:
16	chr2:96004290..96007822-chr2:96008274..96011100,3	K562	blood:

No data

Variant related genes	Relation type
KCNIP3	TF binding region
KCNIP3	CpG island
ENSG00000175354	chromatin interactions
ENSG00000163067	chromatin interactions
ENSG00000155066	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373398621	chr2:96010830-96010831	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537239769	chr2:96010896-96010897	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557482885	chr2:96010898-96010899	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574171541	chr2:96011054-96011055	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543308351	chr2:96011058-96011059	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553734101	chr2:96011059-96011060	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559565576	chr2:96011070-96011071	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549559456	chr2:96011087-96011088	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191073496	chr2:96011110-96011111	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564158298	chr2:96011123-96011124	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551302342	chr2:96011168-96011169	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376371073	chr2:96011171-96011172	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76901392	chr2:96011175-96011176	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543159612	chr2:96011191-96011192	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544859622	chr2:96011196-96011197	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529094938	chr2:96011197-96011198	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570878893	chr2:96011278-96011279	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548851577	chr2:96011295-96011296	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565668047	chr2:96011303-96011304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34373582	chr2:96011324-96011325	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538003578	chr2:96011374-96011375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528465842	chr2:96011387-96011388	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551403642	chr2:96011421-96011422	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571552622	chr2:96011454-96011455	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs148623884	chr2:96011495-96011496	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557190266	chr2:96011507-96011508	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550139979	chr2:96011511-96011512	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1862898	chr2:96011531-96011532	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553696999	chr2:96011537-96011538	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs59973864	chr2:96011587-96011588	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545723698	chr2:96011609-96011610	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557691123	chr2:96011641-96011642	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs554015077	chr2:96011649-96011650	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577589927	chr2:96011736-96011737	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs543473942	chr2:96011764-96011765	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563276587	chr2:96011785-96011786	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs367698779	chr2:96011808-96011809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529032220	chr2:96011809-96011810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs6750542	chr2:96011838-96011839	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs559214417	chr2:96011873-96011874	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199864911	chr2:96011912-96011913	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551283108	chr2:96011968-96011969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553538618	chr2:96011969-96011970	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs571581873	chr2:96012078-96012079	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs535727988	chr2:96012081-96012082	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551029960	chr2:96012121-96012122	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs567697680	chr2:96012175-96012176	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs536830323	chr2:96012178-96012179	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547173112	chr2:96012237-96012238	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs113973690	chr2:96012364-96012365	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96008600-96011000	Enhancers	HMEC	breast
2	chr2:96008800-96011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:96009000-96011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:96009000-96011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:96009200-96011000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:96009200-96011200	Enhancers	NHEK	skin
7	chr2:96010000-96011400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:96010400-96010800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:96010400-96010800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:96010400-96010800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:96010400-96011000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:96010600-96011000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:96010600-96011000	Bivalent Enhancer	Fetal Kidney	kidney
14	chr2:96010800-96011000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:96010800-96011000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:96010800-96011000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr2:96010800-96011000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:96010800-96011000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:96010800-96011000	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr2:96010800-96011000	Enhancers	Aorta	Aorta
21	chr2:96010800-96011000	Enhancers	Brain Angular Gyrus	brain
22	chr2:96010800-96011000	Enhancers	Brain Anterior Caudate	brain
23	chr2:96010800-96011000	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:96010800-96011000	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr2:96010800-96011000	Enhancers	Brain Hippocampus Middle	brain
26	chr2:96010800-96011000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:96010800-96011000	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr2:96010800-96011000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr2:96010800-96011000	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr2:96010800-96011000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr2:96010800-96011000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr2:96010800-96011000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr2:96010800-96011000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
34	chr2:96010800-96011000	Enhancers	Right Atrium	heart
35	chr2:96010800-96011000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr2:96010800-96011000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr2:96010800-96011000	Enhancers	Hela-S3	cervix
38	chr2:96010800-96011000	Bivalent Enhancer	NH-A	brain
39	chr2:96010800-96011200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:96010800-96011200	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr2:96010800-96011200	Bivalent Enhancer	Primary T cells from cord blood	blood
42	chr2:96010800-96011200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
44	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:96010800-96011200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
47	chr2:96010800-96011200	Bivalent Enhancer	NHDF-Ad	bronchial
48	chr2:96010800-96011400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr2:96010800-96011400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:96010800-96011400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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