Variant report

Variant	nsv1020568
Chromosome Location	chr7:12802640-13183737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2835)
CpG islands
(count:734)
Chromatin interactive
region (count:260)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2835 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:13106506-13106882	K562	blood:	n/a	n/a
2	ARID3A	chr7:12981059-12982720	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:13090394-13090680	K562	blood:	n/a	n/a
4	ARID3A	chr7:13018928-13019159	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:13017865-13018065	K562	blood:	n/a	n/a
6	ARID3A	chr7:12970216-12970508	K562	blood:	n/a	n/a
7	ARID3A	chr7:12989044-12989290	K562	blood:	n/a	n/a
8	ARID3A	chr7:13138761-13139142	HepG2	liver:	n/a	n/a
9	ARID3A	chr7:12810466-12811301	K562	blood:	n/a	n/a
10	ARID3A	chr7:12969174-12969445	K562	blood:	n/a	n/a
11	ARID3A	chr7:13059660-13059769	HepG2	liver:	n/a	n/a
12	ARID3A	chr7:12835938-12835963	K562	blood:	n/a	n/a
13	ARID3A	chr7:12841652-12842128	K562	blood:	n/a	n/a
14	ARID3A	chr7:13097011-13097123	K562	blood:	n/a	n/a
15	ARID3A	chr7:12991036-12991529	K562	blood:	n/a	n/a
16	ARID3A	chr7:13090328-13090658	HepG2	liver:	n/a	n/a
17	ARID3A	chr7:13024945-13025261	HepG2	liver:	n/a	n/a
18	ARID3A	chr7:13072169-13072296	K562	blood:	n/a	n/a
19	ARID3A	chr7:13156776-13157108	HepG2	liver:	n/a	n/a
20	ARID3A	chr7:13001266-13002208	K562	blood:	n/a	n/a
21	ARID3A	chr7:13131747-13132382	K562	blood:	n/a	n/a
22	ARID3A	chr7:13056390-13057663	HepG2	liver:	n/a	n/a
23	ARID3A	chr7:13055750-13055895	K562	blood:	n/a	n/a
24	ARID3A	chr7:13061158-13061756	HepG2	liver:	n/a	n/a
25	ARID3A	chr7:12905793-12905921	K562	blood:	n/a	n/a
26	ARID3A	chr7:12865670-12865902	K562	blood:	n/a	n/a
27	ARID3A	chr7:13006650-13007009	HepG2	liver:	n/a	n/a
28	ARID3A	chr7:13082250-13082693	HepG2	liver:	n/a	n/a
29	ARID3A	chr7:13156744-13157084	K562	blood:	n/a	n/a
30	ARID3A	chr7:12840632-12840964	K562	blood:	n/a	n/a
31	ARID3A	chr7:12845727-12845851	K562	blood:	n/a	n/a
32	ARID3A	chr7:12906141-12906228	K562	blood:	n/a	n/a
33	ARID3A	chr7:12952664-12952915	K562	blood:	n/a	n/a
34	ARID3A	chr7:12836170-12836696	K562	blood:	n/a	n/a
35	ARID3A	chr7:12855616-12855668	K562	blood:	n/a	n/a
36	ARID3A	chr7:13176170-13176171	K562	blood:	n/a	n/a
37	ARID3A	chr7:13143855-13144055	K562	blood:	n/a	n/a
38	ARID3A	chr7:12988970-12989555	HepG2	liver:	n/a	n/a
39	ARID3A	chr7:12997018-12997501	K562	blood:	n/a	n/a
40	ARID3A	chr7:13022325-13022364	K562	blood:	n/a	n/a
41	ARID3A	chr7:13143806-13144072	HepG2	liver:	n/a	n/a
42	ATF1	chr7:12991175-12991494	K562	blood:	n/a	n/a
43	ATF1	chr7:13084011-13084211	K562	blood:	n/a	n/a
44	ATF1	chr7:13131823-13132227	K562	blood:	n/a	n/a
45	ATF1	chr7:13172051-13172233	K562	blood:	n/a	n/a
46	ATF1	chr7:13143829-13144112	K562	blood:	n/a	n/a
47	ATF1	chr7:13158387-13158436	K562	blood:	n/a	n/a
48	ATF1	chr7:12969223-12969475	K562	blood:	n/a	n/a
49	ATF1	chr7:13074981-13075168	K562	blood:	n/a	n/a
50	ATF1	chr7:13001613-13001873	K562	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:12810263-12810313	HAEpiC	amniotic membrane:	n/a
2	chr7:12879306-12879356	NHDF-neo	bronchial:	n/a
3	chr7:12810263-12810313	HAEpiC	amniotic membrane:	n/a
4	chr7:12879306-12879356	NHDF-neo	bronchial:	n/a
5	chr7:13057352-13057402	Hepatocyte	liver:	n/a
6	chr7:12841881-12841931	GM12878	blood:	n/a
7	chr7:12923850-12923900	BJ	skin:	n/a
8	chr7:12971260-12971310	AG09319	gingival:	n/a
9	chr7:13155344-13155394	AG09309	skin:	n/a
10	chr7:12810263-12810313	PrEC	prostate:	n/a
11	chr7:13055962-13056012	HRPEpiC	eye:	n/a
12	chr7:12971260-12971310	IMR90	lung:	fetal
13	chr7:12879306-12879356	Jurkat	blood:	n/a
14	chr7:13025242-13025292	HNPCEpiC	eye:	n/a
15	chr7:13055962-13056012	HEEpiC	esophagus:	n/a
16	chr7:12810263-12810313	HMEC	breast:	n/a
17	chr7:13141735-13141785	HAEpiC	amniotic membrane:	n/a
18	chr7:13155344-13155394	HMEC	breast:	n/a
19	chr7:13141735-13141785	HL-60	blood:	n/a
20	chr7:13025242-13025292	PrEC	prostate:	n/a
21	chr7:13141735-13141785	MCF-7	breast:	n/a
22	chr7:12923850-12923900	HCT-116	colon:	n/a
23	chr7:12810263-12810313	Hela-S3	cervix:	n/a
24	chr7:12841881-12841931	GM12892	blood:	n/a
25	chr7:12810263-12810313	HRCEpiC	kidney:	n/a
26	chr7:12971332-12971382	HAEpiC	amniotic membrane:	n/a
27	chr7:13141735-13141785	NHDF-neo	bronchial:	n/a
28	chr7:12971332-12971382	HEEpiC	esophagus:	n/a
29	chr7:13155344-13155394	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:12879306-12879356	AG09319	gingival:	n/a
31	chr7:13072314-13072364	GM12878	blood:	n/a
32	chr7:13072314-13072364	SAEC	small airway:	n/a
33	chr7:12971332-12971382	HRPEpiC	eye:	n/a
34	chr7:12841881-12841931	T-47D	breast:	n/a
35	chr7:12841881-12841931	SK-N-SH_RA	brain:	n/a
36	chr7:12810263-12810313	U87	brain:	n/a
37	chr7:13141735-13141785	HUVEC	blood vessel:	n/a
38	chr7:13025242-13025292	BJ	skin:	n/a
39	chr7:13025242-13025292	NHDF-neo	bronchial:	n/a
40	chr7:12879306-12879356	H1-hESC	embryonic stem cell:	embryo
41	chr7:13025242-13025292	AG09319	gingival:	n/a
42	chr7:12923850-12923900	MCF10A-Er-Src	breast:	n/a
43	chr7:13055962-13056012	GM12892	blood:	n/a
44	chr7:12879306-12879356	SAEC	small airway:	n/a
45	chr7:13055962-13056012	MCF10A-Er-Src	breast:	n/a
46	chr7:13141735-13141785	RPTEC	kidney:	n/a
47	chr7:13072314-13072364	Hepatocyte	liver:	n/a
48	chr7:12923850-12923900	GM06990	blood:	n/a
49	chr7:12923850-12923900	LNCaP	prostate:	n/a
50	chr7:12971332-12971382	A549	lung:	n/a

(count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr7:12726249..12728170-chr7:12818425..12821332,2	MCF-7	breast:
2	chr7:13061821..13064035-chr7:13076250..13077788,2	MCF-7	breast:
3	chr7:12724922..12727661-chr7:12949470..12951778,2	K562	blood:
4	chr7:12848902..12851417-chr7:12852205..12854551,2	MCF-7	breast:
5	chr7:12912617..12914205-chr7:12916335..12918399,2	K562	blood:
6	chr7:13146450..13148956-chr7:13151839..13153573,2	MCF-7	breast:
7	chr7:12725501..12727537-chr7:12863824..12866814,2	K562	blood:
8	chr7:12867009..12868914-chr7:12869062..12871956,2	K562	blood:
9	chr7:12980961..12983258-chr7:13154370..13156023,2	MCF-7	breast:
10	chr7:13146440..13148600-chr7:13150373..13152655,2	K562	blood:
11	chr7:12728794..12731512-chr7:12834236..12836117,2	K562	blood:
12	chr7:12730191..12732568-chr7:13002089..13004922,3	K562	blood:
13	chr7:12726182..12729102-chr7:12805599..12808937,3	K562	blood:
14	chr7:12731429..12733326-chr7:12855233..12857864,2	K562	blood:
15	chr7:12970290..12973079-chr7:13097205..13098974,2	K562	blood:
16	chr7:12816193..12818807-chr7:12819189..12821870,3	K562	blood:
17	chr7:12724668..12727132-chr7:13005066..13007173,2	MCF-7	breast:
18	chr7:12805050..12807862-chr7:12810613..12813616,3	K562	blood:
19	chr7:12728919..12730458-chr7:12808880..12810657,2	K562	blood:
20	chr7:13000222..13002006-chr7:13022745..13025584,2	K562	blood:
21	chr7:12727055..12727630-chr7:12845268..12846026,2	NB4	blood:
22	chr7:13088931..13090663-chr7:13093892..13095543,2	K562	blood:
23	chr7:12807281..12809251-chr7:12830118..12832463,2	K562	blood:
24	chr7:13015320..13017898-chr7:13018830..13021112,2	K562	blood:
25	chr7:12997660..13000139-chr7:13023304..13026150,2	MCF-7	breast:
26	chr7:12724061..12726495-chr7:12959611..12962564,2	K562	blood:
27	chr7:12990977..12995089-chr7:12996583..12998919,4	MCF-7	breast:
28	chr7:12982597..12985238-chr7:12986749..12990745,4	K562	blood:
29	chr7:12835963..12838649-chr7:12840426..12842028,2	K562	blood:
30	chr7:13081390..13084291-chr7:13084595..13087584,2	K562	blood:
31	chr7:13053595..13056376-chr7:13057496..13060584,3	K562	blood:
32	chr7:12907484..12910263-chr7:12913109..12915374,2	K562	blood:
33	chr7:12907138..12909951-chr7:12999390..13002085,2	K562	blood:
34	chr7:13085851..13087402-chr7:13106082..13107771,2	K562	blood:
35	chr7:13005159..13006862-chr7:13012261..13014568,2	K562	blood:
36	chr7:12899240..12902196-chr7:12906624..12908887,2	K562	blood:
37	chr7:12753027..12755219-chr7:12963592..12965735,2	K562	blood:
38	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
39	chr7:12952382..12954094-chr7:12985590..12988388,2	K562	blood:
40	chr7:12985845..12987465-chr7:12989105..12990628,2	MCF-7	breast:
41	chr7:12726542..12728897-chr7:13150585..13153553,2	MCF-7	breast:
42	chr7:12903544..12904421-chr7:12938353..12938922,2	K562	blood:
43	chr7:12961395..12963715-chr7:12983088..12984785,2	K562	blood:
44	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
45	chr7:12730592..12732679-chr7:13123373..13125180,2	K562	blood:
46	chr7:13044871..13047028-chr7:13047401..13048917,2	K562	blood:
47	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
48	chr7:12898438..12903845-chr7:12907285..12911161,5	K562	blood:
49	chr7:13075551..13079292-chr7:13079438..13082222,3	MCF-7	breast:
50	chr7:12903544..12904421-chr7:12938353..12938922,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWDE-4	chr7:12907230-12907420	XLOC_006357
2	lnc-VWDE-9	chr7:12962170-12962545	NONHSAT119245
3	lnc-ARL4A-1	chr7:13141097-13141208	XLOC_005988
4	lnc-VWDE-8	chr7:12879517-12879661	l_3364_chr7:12873747-12879661_testes
5	lnc-ARL4A-7	chr7:13107622-13107733	NONHSAT119248
6	lnc-ARL4A-5	chr7:12916309-12916571	NONHSAT119243
7	lnc-ARL4A-6	chr7:13006471-13006612	NONHSAT119246
8	lnc-ARL4A-7	chr7:13108158-13108539	NONHSAT119247
9	lnc-ARL4A-7	chr7:13107541-13107733	NONHSAT119247
10	lnc-VWDE-4	chr7:12912991-12913136	NONHSAT119241
11	lnc-ARL4A-6	chr7:13006732-13006797	NONHSAT119246
12	lnc-VWDE-4	chr7:12912992-12913136	XLOC_006357
13	lnc-VWDE-4	chr7:12907229-12907420	NONHSAT119241
14	lnc-VWDE-8	chr7:12873911-12873945	l_3364_chr7:12873747-12879661_testes
15	lnc-VWDE-8	chr7:12873748-12873904	l_3364_chr7:12873747-12879661_testes

No data

Variant related genes	Relation type
RN7SKP228	TF binding region
ENSG00000229618	TF binding region
RBMX2P4	TF binding region
RN7SKP228	CpG island
ENSG00000229618	CpG island
RBMX2P4	CpG island
ENSG00000271253	chromatin interactions
ENSG00000230879	chromatin interactions
ENSG00000122644	chromatin interactions
ENSG00000222974	chromatin interactions
ERO1L	miRNA target sites
ERRFI1	miRNA target sites

Extended variants
information (count: 15845 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:15845 , 50 per page) page: 1 2 3 4 5 6 7 ... 317

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181035303	chr7:12802669-12802670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551807772	chr7:12802671-12802672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185989339	chr7:12802717-12802718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116629659	chr7:12802752-12802753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577305055	chr7:12802772-12802773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368781912	chr7:12802815-12802816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557091653	chr7:12802833-12802834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573812354	chr7:12802933-12802934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536437517	chr7:12802940-12802941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11772461	chr7:12802941-12802942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572975112	chr7:12802959-12802960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113483899	chr7:12802968-12802969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373971569	chr7:12802982-12802983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556183297	chr7:12803053-12803054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146022087	chr7:12803088-12803089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147821308	chr7:12803127-12803128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563419649	chr7:12803135-12803136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191179707	chr7:12803188-12803189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115680249	chr7:12803204-12803205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182554741	chr7:12803217-12803218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528679967	chr7:12803251-12803252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200976977	chr7:12803290-12803291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561897361	chr7:12803318-12803319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552043169	chr7:12803348-12803349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572574703	chr7:12803349-12803350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375206343	chr7:12803350-12803351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141277232	chr7:12803371-12803372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530498930	chr7:12803375-12803376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550633946	chr7:12803390-12803391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567286210	chr7:12803394-12803395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10279964	chr7:12803443-12803444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532260286	chr7:12803453-12803454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112232433	chr7:12803454-12803455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552796794	chr7:12803477-12803478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372441576	chr7:12803488-12803489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552195028	chr7:12803509-12803510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9987051	chr7:12803510-12803511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137962500	chr7:12803549-12803550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189156997	chr7:12803584-12803585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562477737	chr7:12803589-12803590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79901600	chr7:12803598-12803599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575281160	chr7:12803606-12803607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112920874	chr7:12803621-12803622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556899177	chr7:12803662-12803663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536407940	chr7:12803667-12803668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191906104	chr7:12803690-12803691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112869844	chr7:12803722-12803723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559599173	chr7:12803729-12803730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528683246	chr7:12803774-12803775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143013337	chr7:12803802-12803803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1870 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12796600-12804200	Weak transcription	HSMM	muscle
2	chr7:12797200-12808800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:12798000-12804600	Weak transcription	NHDF-Ad	bronchial
4	chr7:12798000-12806000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:12798000-12808600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:12799000-12806000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:12801000-12808200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:12801200-12804200	Weak transcription	Osteobl	bone
9	chr7:12801400-12805200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:12801600-12804000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:12801800-12804200	Weak transcription	HSMMtube	muscle
12	chr7:12801800-12809200	Weak transcription	HUVEC	blood vessel
13	chr7:12802000-12810400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:12802800-12803000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:12802800-12803000	Enhancers	Brain Germinal Matrix	brain
16	chr7:12803000-12804000	Weak transcription	Brain Germinal Matrix	brain
17	chr7:12803400-12805000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:12803600-12804800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:12803800-12804400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:12803800-12804600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:12803800-12804600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:12803800-12804600	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:12804000-12804400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:12804000-12804600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:12804000-12804600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:12804000-12804800	Enhancers	K562	blood
27	chr7:12804000-12805000	Enhancers	Brain Germinal Matrix	brain
28	chr7:12804000-12805600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:12804200-12804800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:12804200-12805800	Enhancers	Osteobl	bone
31	chr7:12804200-12806400	Enhancers	HSMM	muscle
32	chr7:12804200-12806400	Enhancers	HSMMtube	muscle
33	chr7:12804400-12804800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:12804400-12805000	Enhancers	Brain Hippocampus Middle	brain
35	chr7:12804400-12809200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:12804600-12804800	Enhancers	NHDF-Ad	bronchial
37	chr7:12804600-12808000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:12804600-12808200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:12804600-12810000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:12804800-12805600	Weak transcription	NHDF-Ad	bronchial
41	chr7:12804800-12809000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:12804800-12809200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:12804800-12809800	Weak transcription	K562	blood
44	chr7:12805000-12807200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:12805000-12809200	Weak transcription	Brain Germinal Matrix	brain
46	chr7:12805000-12810000	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:12805200-12806000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:12805200-12806600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:12805600-12806000	Enhancers	NHDF-Ad	bronchial
50	chr7:12805600-12806400	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links