Variant report

Variant	esv3346218
Chromosome Location	chr7:64450915-64459952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:407)
CpG islands
(count:673)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:64459753-64460578	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:64459636-64460572	K562	blood:	n/a	n/a
3	ATF1	chr7:64459781-64460371	K562	blood:	n/a	n/a
4	ATF3	chr7:64459704-64460353	K562	blood:	n/a	n/a
5	BCLAF1	chr7:64459556-64460477	K562	blood:	n/a	n/a
6	BHLHE40	chr7:64459847-64460171	HepG2	liver:	n/a	n/a
7	BHLHE40	chr7:64459158-64460402	K562	blood:	n/a	n/a
8	BHLHE40	chr7:64459907-64460143	GM12878	blood:	n/a	n/a
9	BRCA1	chr7:64459822-64460243	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr7:64457356-64458532	K562	blood:	n/a	n/a
11	CBX3	chr7:64458809-64460695	K562	blood:	n/a	n/a
12	CBX3	chr7:64450548-64451013	K562	blood:	n/a	n/a
13	CBX3	chr7:64450507-64451012	HCT-116	colon:	n/a	n/a
14	CBX3	chr7:64458307-64458862	HCT-116	colon:	n/a	n/a
15	CBX3	chr7:64450587-64450983	K562	blood:	n/a	n/a
16	CBX3	chr7:64458265-64460693	K562	blood:	n/a	n/a
17	CCNT2	chr7:64459531-64460413	K562	blood:	n/a	n/a
18	CEBPB	chr7:64458207-64458927	MCF-7	breast:	n/a	chr7:64458653-64458664
19	CEBPB	chr7:64459682-64460211	MCF-7	breast:	n/a	n/a
20	CEBPB	chr7:64458634-64458706	HepG2	liver:	n/a	chr7:64458653-64458664
21	CEBPB	chr7:64459718-64460320	K562	blood:	n/a	n/a
22	CEBPB	chr7:64459787-64460173	HepG2	liver:	n/a	n/a
23	CEBPB	chr7:64459783-64460276	HepG2	liver:	n/a	n/a
24	CEBPB	chr7:64458365-64458761	H1-hESC	embryonic stem cell:	n/a	chr7:64458653-64458664
25	CEBPB	chr7:64450836-64451071	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr7:64458227-64458960	HCT-116	colon:	n/a	chr7:64458653-64458664
27	CEBPB	chr7:64458241-64458910	MCF-7	breast:	n/a	chr7:64458653-64458664
28	CEBPB	chr7:64458369-64458826	HCT-116	colon:	n/a	chr7:64458653-64458664
29	CEBPB	chr7:64459632-64460516	K562	blood:	n/a	n/a
30	CEBPB	chr7:64450784-64451144	K562	blood:	n/a	n/a
31	CEBPB	chr7:64459713-64460382	K562	blood:	n/a	n/a
32	CEBPB	chr7:64459752-64460235	MCF-7	breast:	n/a	n/a
33	CEBPB	chr7:64458484-64458842	IMR90	lung:	n/a	chr7:64458653-64458664
34	CEBPB	chr7:64458460-64458742	ECC-1	luminal epithelium:	n/a	chr7:64458653-64458664
35	CEBPB	chr7:64459743-64460378	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr7:64458425-64458728	ECC-1	luminal epithelium:	n/a	chr7:64458653-64458664
37	CEBPB	chr7:64459688-64460174	HepG2	liver:	n/a	n/a
38	CEBPB	chr7:64458572-64458800	Hela-S3	cervix:	n/a	chr7:64458653-64458664
39	CEBPB	chr7:64459778-64460302	HepG2	liver:	n/a	n/a
40	CEBPD	chr7:64459687-64460507	K562	blood:	n/a	n/a
41	CEBPD	chr7:64459669-64460519	K562	blood:	n/a	n/a
42	CHD2	chr7:64459690-64460208	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr7:64457077-64457078	HepG2	liver:	n/a	n/a
44	CHD2	chr7:64459575-64460209	K562	blood:	n/a	n/a
45	CHD2	chr7:64459797-64460070	HepG2	liver:	n/a	n/a
46	CHD2	chr7:64458472-64458832	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr7:64457475-64457672	K562	blood:	n/a	n/a
48	CHD2	chr7:64458406-64458638	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr7:64459473-64460497	K562	blood:	n/a	n/a
50	CTCF	chr7:64455880-64456030	GM12872	blood:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64452540-64452590	IMR90	lung:	fetal
2	chr7:64454811-64454861	AG09319	gingival:	n/a
3	chr7:64452540-64452590	IMR90	lung:	fetal
4	chr7:64454811-64454861	AG09319	gingival:	n/a
5	chr7:64454811-64454861	HEEpiC	esophagus:	n/a
6	chr7:64452540-64452590	AoSMC	blood vessel:	n/a
7	chr7:64452540-64452590	Hela-S3	cervix:	n/a
8	chr7:64453002-64453052	NB4	blood:	n/a
9	chr7:64450875-64450925	HCF	heart:	n/a
10	chr7:64452895-64452945	HRCEpiC	kidney:	n/a
11	chr7:64452895-64452945	AG10803	skin:	n/a
12	chr7:64452073-64452123	IMR90	lung:	fetal
13	chr7:64450875-64450925	NH-A	brain:	n/a
14	chr7:64452073-64452123	HEK293	kidney:	embryo
15	chr7:64454811-64454861	PANC-1	pancreas:	n/a
16	chr7:64450875-64450925	K562	blood:	n/a
17	chr7:64458642-64458692	Hela-S3	cervix:	n/a
18	chr7:64452895-64452945	AoSMC	blood vessel:	n/a
19	chr7:64450926-64450976	SAEC	small airway:	n/a
20	chr7:64451426-64451476	NHDF-neo	bronchial:	n/a
21	chr7:64458642-64458692	HUVEC	blood vessel:	n/a
22	chr7:64454811-64454861	SAEC	small airway:	n/a
23	chr7:64453002-64453052	HCF	heart:	n/a
24	chr7:64452540-64452590	SAEC	small airway:	n/a
25	chr7:64451414-64451464	Caco-2	colon:	n/a
26	chr7:64450875-64450925	PFSK-1	brain:	n/a
27	chr7:64451414-64451464	NH-A	brain:	n/a
28	chr7:64453002-64453052	Caco-2	colon:	n/a
29	chr7:64452895-64452945	Caco-2	colon:	n/a
30	chr7:64453684-64453734	HEEpiC	esophagus:	n/a
31	chr7:64450875-64450925	MCF10A-Er-Src	breast:	n/a
32	chr7:64454811-64454861	GM12891	blood:	n/a
33	chr7:64452540-64452590	HCT-116	colon:	n/a
34	chr7:64453684-64453734	BJ	skin:	n/a
35	chr7:64454811-64454861	U87	brain:	n/a
36	chr7:64451426-64451476	AG04449	skin:	fetal
37	chr7:64453002-64453052	GM06990	blood:	n/a
38	chr7:64451414-64451464	MCF-7	breast:	n/a
39	chr7:64454811-64454861	GM06990	blood:	n/a
40	chr7:64450875-64450925	HL-60	blood:	n/a
41	chr7:64453684-64453734	GM12878	blood:	n/a
42	chr7:64451426-64451476	GM19239	blood:	n/a
43	chr7:64458642-64458692	HMEC	breast:	n/a
44	chr7:64453684-64453734	GM12891	blood:	n/a
45	chr7:64450875-64450925	HAEpiC	amniotic membrane:	n/a
46	chr7:64451426-64451476	SK-N-MC	brain:	n/a
47	chr7:64450875-64450925	NB4	blood:	n/a
48	chr7:64451414-64451464	NHBE	bronchial:	n/a
49	chr7:64451414-64451464	SKMC	muscle:	n/a
50	chr7:64453002-64453052	K562	blood:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:64414429..64416798-chr7:64452211..64454777,2	MCF-7	breast:
2	chr13:46752471..46753064-chr7:64458657..64459577,2	NB4	blood:
3	chr7:64415881..64418431-chr7:64455784..64458339,2	K562	blood:
4	chr7:64454254..64456313-chr7:64461588..64463647,2	MCF-7	breast:
5	chr7:64449601..64451146-chr7:64452549..64454237,2	K562	blood:
6	chr7:64454048..64457765-chr7:64465398..64467279,3	MCF-7	breast:
7	chr7:64444227..64448944-chr7:64454990..64458661,5	K562	blood:
8	chr7:64458581..64463311-chr7:64465142..64468590,8	MCF-7	breast:
9	chr7:64448511..64452779-chr7:64455482..64461514,7	K562	blood:
10	chr7:64459669..64463022-chr7:64465763..64468118,3	MCF-7	breast:
11	chr7:64459373..64461463-chr7:64498279..64500003,2	K562	blood:
12	chr7:64452604..64455149-chr7:64456846..64459558,2	MCF-7	breast:
13	chr7:64453338..64456420-chr7:64456552..64459818,7	K562	blood:
14	chr7:64430037..64431649-chr7:64452828..64455445,2	K562	blood:
15	chr7:64439777..64442634-chr7:64459422..64461522,2	K562	blood:
16	chr7:64458180..64461318-chr7:64498242..64500063,3	K562	blood:
17	chr7:64362042..64365013-chr7:64457372..64461307,3	K562	blood:
18	chr7:64453338..64456420-chr7:64456552..64459818,7	K562	blood:
19	chr7:64362459..64365013-chr7:64458688..64461383,3	K562	blood:
20	chr7:64449601..64451146-chr7:64452549..64454237,2	K562	blood:
21	chr7:64456225..64458707-chr7:64461736..64463690,4	MCF-7	breast:
22	chr7:64452604..64455149-chr7:64456846..64459558,2	MCF-7	breast:
23	chr7:64443801..64446624-chr7:64455450..64458342,2	K562	blood:
24	chr7:64434545..64437511-chr7:64457561..64459836,2	MCF-7	breast:
25	chr7:64457395..64459217-chr7:64460066..64463149,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF117	TF binding region
ZNF117	CpG island
ENSG00000198039	chromatin interactions
ENSG00000152926	chromatin interactions
ENSG00000239985	chromatin interactions
ENSG00000234585	chromatin interactions
ENSG00000213462	chromatin interactions

Extended variants
information (count: 476 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34577522	chr7:64450927-64450928	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs398095131	chr7:64450928-64450929	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114265713	chr7:64450945-64450946	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561278576	chr7:64451041-64451042	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549919592	chr7:64451088-64451089	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114820091	chr7:64451100-64451101	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546647030	chr7:64451131-64451132	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566859884	chr7:64451146-64451147	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181613196	chr7:64451169-64451170	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536523928	chr7:64451170-64451171	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62456475	chr7:64451216-64451217	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201094084	chr7:64451226-64451227	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1803754	chr7:64451234-64451235	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62456476	chr7:64451242-64451243	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554982803	chr7:64451300-64451301	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149760804	chr7:64451332-64451333	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567539508	chr7:64451342-64451343	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536555483	chr7:64451376-64451377	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552655508	chr7:64451393-64451394	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71539633	chr7:64451415-64451416	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs3088174	chr7:64451426-64451427	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs148967194	chr7:64451427-64451428	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs558649813	chr7:64451433-64451434	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs367827469	chr7:64451452-64451453	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs199739124	chr7:64451467-64451468	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs185738388	chr7:64451526-64451527	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs144280567	chr7:64451527-64451528	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs369992457	chr7:64451553-64451554	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11771269	chr7:64451558-64451559	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs374036431	chr7:64451578-64451579	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs376628112	chr7:64451632-64451633	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201452191	chr7:64451646-64451647	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs199603027	chr7:64451649-64451650	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4718177	chr7:64451656-64451657	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs200211834	chr7:64451668-64451669	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs377340326	chr7:64451693-64451694	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs4717229	chr7:64451699-64451700	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs377303239	chr7:64451705-64451706	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116381104	chr7:64451707-64451708	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs71534243	chr7:64451709-64451710	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531864174	chr7:64451710-64451711	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375719949	chr7:64451767-64451768	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs550750010	chr7:64451787-64451788	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200537808	chr7:64451790-64451791	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs146735658	chr7:64451791-64451792	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs140328853	chr7:64451845-64451846	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs368193101	chr7:64451847-64451848	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs566324998	chr7:64451864-64451865	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs538665950	chr7:64451888-64451889	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372055641	chr7:64451898-64451899	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64433400-64465600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:64436400-64454200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:64436800-64454200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr7:64438600-64465200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:64438800-64454400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:64440200-64457600	Weak transcription	Pancreas	Pancrea
7	chr7:64440600-64452000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:64441800-64453200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:64441800-64456800	Weak transcription	Fetal Heart	heart
10	chr7:64441800-64459400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:64441800-64465000	Weak transcription	Brain Angular Gyrus	brain
12	chr7:64442000-64452800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:64442000-64453600	Weak transcription	Fetal Kidney	kidney
14	chr7:64442000-64457600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:64442600-64453200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:64442600-64453600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:64443000-64452200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:64443800-64457200	Weak transcription	Right Ventricle	heart
19	chr7:64444200-64454200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr7:64444800-64452400	Weak transcription	Ovary	ovary
21	chr7:64445400-64452000	Weak transcription	Esophagus	oesophagus
22	chr7:64446000-64460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr7:64446400-64452200	Weak transcription	Left Ventricle	heart
24	chr7:64447600-64453000	Weak transcription	HSMM	muscle
25	chr7:64448800-64454200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr7:64448800-64461200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:64449000-64451000	Weak transcription	Brain Anterior Caudate	brain
28	chr7:64449000-64465200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr7:64449200-64451800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:64449200-64454400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:64450000-64464000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr7:64450200-64451400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:64450200-64452000	ZNF genes & repeats	HepG2	liver
34	chr7:64450200-64452200	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr7:64450200-64453800	ZNF genes & repeats	Aorta	Aorta
36	chr7:64450200-64454000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:64450200-64454200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr7:64450200-64460000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:64450200-64460000	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr7:64450200-64460000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr7:64450200-64462400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:64450200-64462400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:64450200-64462600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:64450200-64465400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:64450400-64452000	Strong transcription	HSMMtube	muscle
46	chr7:64450400-64453800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:64450400-64453800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:64450400-64454000	ZNF genes & repeats	Liver	Liver
49	chr7:64450400-64455400	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr7:64450400-64460000	ZNF genes & repeats	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links