Variant report

Variant	esv3437070
Chromosome Location	chr2:96011450-96013998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr2:96011313-96011814	K562	blood:	n/a	n/a
4	BACH1	chr2:96012738-96012872	H1-hESC	embryonic stem cell:	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	chr2:96011350-96011591	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr2:96011348-96011572	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr2:96011347-96011539	HepG2	liver:	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	chr2:96011345-96011664	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr2:96011237-96011868	K562	blood:	n/a	n/a
19	CHD2	chr2:96011396-96011653	HepG2	liver:	n/a	n/a
20	CHD2	chr2:96011337-96011694	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr2:96012864-96012917	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr2:96011153-96011749	A549	lung:	n/a	n/a
23	CREB1	chr2:96012060-96012349	A549	lung:	n/a	n/a
24	CTCF	chr2:96011360-96011510	BJ	skin:	n/a	chr2:96011445-96011458
25	CTCF	chr2:96011380-96011530	HA-sp	spinal cord:	n/a	chr2:96011445-96011458
26	CTCF	chr2:96011313-96011558	LNCaP	prostate:	n/a	chr2:96011445-96011458
27	CTCF	chr2:96011360-96011510	GM12865	blood:	n/a	chr2:96011445-96011458
28	CTCF	chr2:96011380-96011530	HCM	heart:	n/a	chr2:96011445-96011458
29	CTCF	chr2:96011320-96011470	NHLF	lung:	n/a	chr2:96011445-96011458
30	CTCF	chr2:96011718-96011754	GM19240	blood:	n/a	n/a
31	CTCF	chr2:96011380-96011530	Caco-2	colon:	n/a	chr2:96011445-96011458
32	CTCF	chr2:96011340-96011490	HFF-Myc	foreskin:	n/a	chr2:96011445-96011458
33	CTCF	chr2:96011380-96011530	K562	blood:	n/a	chr2:96011445-96011458
34	CTCF	chr2:96011420-96011570	BE2_C	brain:	n/a	chr2:96011445-96011458
35	CTCF	chr2:96011540-96011690	NHEK	skin:	n/a	n/a
36	CTCF	chr2:96012569-96012761	IMR90	lung:	n/a	chr2:96012660-96012678
37	CTCF	chr2:96011380-96011530	HVMF	connective:	n/a	chr2:96011445-96011458
38	CTCF	chr2:96011251-96011627	T-47D	breast:	n/a	chr2:96011445-96011458
39	CTCF	chr2:96011400-96011550	Caco-2	colon:	n/a	chr2:96011445-96011458
40	CTCF	chr2:96010910-96012000	SK-N-SH	brain:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
41	CTCF	chr2:96011400-96011550	NHEK	skin:	n/a	chr2:96011445-96011458
42	CTCF	chr2:96011400-96011550	SAEC	small airway:	n/a	chr2:96011445-96011458
43	CTCF	chr2:96011293-96011591	A549	lung:	n/a	chr2:96011445-96011458
44	CTCF	chr2:96011340-96011490	HMEC	breast:	n/a	chr2:96011445-96011458
45	CTCF	chr2:96011380-96011530	GM12866	blood:	n/a	chr2:96011445-96011458
46	CTCF	chr2:96011320-96011470	HFF	foreskin:	n/a	chr2:96011445-96011458
47	CTCF	chr2:96011400-96011550	GM12878	blood:	n/a	chr2:96011445-96011458
48	CTCF	chr2:96011400-96011550	HUVEC	blood vessel:	n/a	chr2:96011445-96011458
49	CTCF	chr2:96011315-96011582	Medullo	brain:	n/a	chr2:96011445-96011458
50	CTCF	chr2:96012880-96013030	AG09319	gingival:	n/a	chr2:96012986-96012999 chr2:96012984-96013002

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96011964-96012014	H1-hESC	embryonic stem cell:	embryo
2	chr2:96011964-96012014	H1-hESC	embryonic stem cell:	embryo
3	chr2:96012328-96012378	GM12891	blood:	n/a
4	chr2:96012586-96012636	Hepatocyte	liver:	n/a
5	chr2:96012735-96012785	AG04450	lung:	fetal
6	chr2:96011915-96011965	PFSK-1	brain:	n/a
7	chr2:96012586-96012636	SK-N-MC	brain:	n/a
8	chr2:96012803-96012853	PrEC	prostate:	n/a
9	chr2:96012586-96012636	Jurkat	blood:	n/a
10	chr2:96013921-96013971	AG09319	gingival:	n/a
11	chr2:96012803-96012853	HL-60	blood:	n/a
12	chr2:96011915-96011965	PANC-1	pancreas:	n/a
13	chr2:96012735-96012785	AG09309	skin:	n/a
14	chr2:96012592-96012642	GM06990	blood:	n/a
15	chr2:96011964-96012014	HCT-116	colon:	n/a
16	chr2:96012586-96012636	ECC-1	luminal epithelium:	n/a
17	chr2:96012592-96012642	Hela-S3	cervix:	n/a
18	chr2:96012328-96012378	GM12892	blood:	n/a
19	chr2:96012586-96012636	LNCaP	prostate:	n/a
20	chr2:96012592-96012642	GM12891	blood:	n/a
21	chr2:96012328-96012378	PrEC	prostate:	n/a
22	chr2:96012595-96012645	SKMC	muscle:	n/a
23	chr2:96011964-96012014	PFSK-1	brain:	n/a
24	chr2:96012586-96012636	T-47D	breast:	n/a
25	chr2:96012803-96012853	T-47D	breast:	n/a
26	chr2:96013921-96013971	GM12878	blood:	n/a
27	chr2:96013196-96013246	HAEpiC	amniotic membrane:	n/a
28	chr2:96012735-96012785	HRPEpiC	eye:	n/a
29	chr2:96012586-96012636	PFSK-1	brain:	n/a
30	chr2:96011964-96012014	GM12878	blood:	n/a
31	chr2:96012592-96012642	HL-60	blood:	n/a
32	chr2:96012735-96012785	U87	brain:	n/a
33	chr2:96011915-96011965	HepG2	liver:	n/a
34	chr2:96012328-96012378	SK-N-SH	brain:	n/a
35	chr2:96012595-96012645	HepG2	liver:	n/a
36	chr2:96012592-96012642	AG10803	skin:	n/a
37	chr2:96012803-96012853	A549	lung:	n/a
38	chr2:96012595-96012645	ovcar-3	ovarian:	n/a
39	chr2:96011915-96011965	NHBE	bronchial:	n/a
40	chr2:96012735-96012785	SKMC	muscle:	n/a
41	chr2:96012328-96012378	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:96012595-96012645	GM06990	blood:	n/a
43	chr2:96011964-96012014	HCPEpiC	choroid plexus:	n/a
44	chr2:96012592-96012642	IMR90	lung:	fetal
45	chr2:96011915-96011965	AG04449	skin:	fetal
46	chr2:96013196-96013246	K562	blood:	n/a
47	chr2:96011964-96012014	Caco-2	colon:	n/a
48	chr2:96012803-96012853	SKMC	muscle:	n/a
49	chr2:96012803-96012853	GM12878	blood:	n/a
50	chr2:96013196-96013246	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:95831424..95833102-chr2:96012448..96013993,2	MCF-7	breast:
2	chr2:95988885..95989833-chr2:96011018..96011890,3	MCF-7	breast:
3	chr2:95989028..95989730-chr2:96011177..96011785,3	MCF-7	breast:
4	chr2:95988846..95989673-chr2:96011074..96011939,2	K562	blood:
5	chr2:96012877..96014896-chr2:96015583..96018073,2	MCF-7	breast:
6	chr2:95926758..95928320-chr2:96008890..96011843,2	K562	blood:
7	chr2:95936957..95940788-chr2:96009231..96012475,5	MCF-7	breast:
8	chr2:95993761..95997355-chr2:96009051..96012049,3	K562	blood:
9	chr2:95995977..95996824-chr2:96011072..96011837,2	MCF-7	breast:
10	chr2:96011035..96011867-chr2:96054738..96055589,3	MCF-7	breast:
11	chr2:95791411..95794237-chr2:96013125..96014933,3	K562	blood:
12	chr2:96011050..96011912-chr2:96394384..96395342,2	MCF-7	breast:
13	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:
14	chr18:12883923..12884448-chr2:96011969..96012489,2	Hela-S3	cervix:
15	chr2:96013648..96015968-chr2:96018150..96020767,2	K562	blood:
16	chr2:96013707..96016670-chr2:96019373..96022015,3	K562	blood:

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

Extended variants
information (count: 92 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	rs567075221	chr2:96012398-96012399	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs539312898	chr2:96012645-96012646	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559005826	chr2:96012703-96012704	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373922462	chr2:96012717-96012718	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs367782812	chr2:96012723-96012724	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370263713	chr2:96012730-96012731	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577553567	chr2:96012733-96012734	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373627482	chr2:96012735-96012736	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200411648	chr2:96012736-96012737	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557016502	chr2:96012748-96012749	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573443770	chr2:96012796-96012797	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542324361	chr2:96012870-96012871	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559092794	chr2:96012875-96012876	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572715463	chr2:96012879-96012880	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375072994	chr2:96012884-96012885	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13023684	chr2:96012892-96012893	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375267130	chr2:96012903-96012904	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7602807	chr2:96012907-96012908	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs565059884	chr2:96012957-96012958	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539605460	chr2:96012959-96012960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530928421	chr2:96013003-96013004	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550736252	chr2:96013006-96013007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558069370	chr2:96013014-96013015	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	1 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:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96010800-96011600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:96010800-96011800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:96010800-96012000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:96010800-96012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:96011000-96011600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:96011000-96011600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:96011000-96011600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
8	chr2:96011000-96011600	Bivalent Enhancer	Placenta	Placenta
9	chr2:96011000-96011600	Bivalent Enhancer	Fetal Thymus	thymus
10	chr2:96011000-96011800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr2:96011000-96011800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:96011000-96011800	Flanking Active TSS	Colonic Mucosa	Colon
13	chr2:96011000-96011800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr2:96011000-96011800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
15	chr2:96011000-96011800	Flanking Active TSS	HMEC	breast
16	chr2:96011000-96011800	Bivalent/Poised TSS	Osteobl	bone
17	chr2:96011000-96012000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr2:96011000-96012000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr2:96011000-96012000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:96011000-96012000	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr2:96011000-96012000	Flanking Active TSS	Right Ventricle	heart
25	chr2:96011000-96012000	Active TSS	HSMMtube	muscle
26	chr2:96011000-96012200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:96011000-96012200	Active TSS	K562	blood
28	chr2:96011000-96012800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:96011000-96012800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:96011000-96012800	Active TSS	Brain Anterior Caudate	brain
31	chr2:96011000-96012800	Active TSS	Rectal Smooth Muscle	rectum
32	chr2:96011000-96013000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:96011000-96013000	Active TSS	Aorta	Aorta
34	chr2:96011000-96013200	Active TSS	HSMM	muscle
35	chr2:96011200-96011600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:96011200-96011600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:96011200-96011600	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
38	chr2:96011200-96011600	Enhancers	Fetal Heart	heart
39	chr2:96011200-96011800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
43	chr2:96011200-96011800	Flanking Active TSS	Pancreas	Pancrea
44	chr2:96011200-96011800	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:96011200-96012000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:96011200-96012000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:96011200-96012000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
50	chr2:96011200-96012000	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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