Variant report

Variant	nsv970400
Chromosome Location	chr7:12637832-12643142
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	BATF	chr7:12640956-12641205	GM12878	blood:	n/a	n/a
2	CBX3	chr7:12641946-12642277	K562	blood:	n/a	n/a
3	CBX3	chr7:12642012-12642335	K562	blood:	n/a	n/a
4	CEBPB	chr7:12642095-12642155	K562	blood:	n/a	n/a
5	EP300	chr7:12642195-12642217	K562	blood:	n/a	n/a
6	JUN	chr7:12642118-12642221	K562	blood:	n/a	n/a
7	KAP1	chr7:12641778-12642345	K562	blood:	n/a	n/a
8	MAFF	chr7:12638681-12638848	HepG2	liver:	n/a	chr7:12638753-12638771
9	MAFK	chr7:12638683-12638915	HepG2	liver:	n/a	chr7:12638756-12638776
10	MEF2A	chr7:12640941-12641239	GM12878	blood:	n/a	n/a
11	NFIC	chr7:12640962-12641309	GM12878	blood:	n/a	chr7:12640990-12641018
12	RFX5	chr7:12641072-12641089	H1-hESC	embryonic stem cell:	n/a	n/a
13	RUNX3	chr7:12640884-12641228	GM12878	blood:	n/a	n/a
14	RUNX3	chr7:12640932-12641323	GM12878	blood:	n/a	n/a
15	SETDB1	chr7:12642052-12642303	U2OS	brain:	n/a	n/a
16	SETDB1	chr7:12641998-12642352	K562	blood:	n/a	n/a
17	SPI1	chr7:12640970-12641184	GM12891	blood:	n/a	n/a
18	STAT3	chr7:12639624-12639756	MCF10A-Er-Src	breast:	n/a	n/a
19	TRIM28	chr7:12642079-12642240	K562	blood:	n/a	n/a
20	TRIM28	chr7:12641906-12642370	K562	blood:	n/a	n/a
21	ZNF143	chr7:12642129-12642253	K562	blood:	n/a	n/a
22	ZNF143	chr7:12642130-12642323	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:12638001..12640706-chr7:12643352..12645469,2	K562	blood:
2	chr7:12626568..12629559-chr7:12635307..12638295,2	MCF-7	breast:
3	chr7:12639327..12643094-chr7:12646520..12649667,3	K562	blood:

Variant related genes	Relation type
SCIN	TF binding region
ENSG00000006747	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115856916	chr7:12637834-12637835	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532551882	chr7:12637837-12637838	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545724827	chr7:12637847-12637848	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117801135	chr7:12637860-12637861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569250900	chr7:12637887-12637888	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531863200	chr7:12637892-12637893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548481803	chr7:12637895-12637896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10244343	chr7:12637910-12637911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568655440	chr7:12637920-12637921	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536785976	chr7:12637925-12637926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146474966	chr7:12637932-12637933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554048999	chr7:12637940-12637941	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74355760	chr7:12637950-12637951	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs702476	chr7:12637967-12637968	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547693545	chr7:12637973-12637974	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377307252	chr7:12638004-12638005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148691075	chr7:12638021-12638022	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555233870	chr7:12638029-12638030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77222385	chr7:12638068-12638069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541278431	chr7:12638127-12638128	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115212325	chr7:12638150-12638151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533313986	chr7:12638154-12638155	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149908776	chr7:12638180-12638181	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546198863	chr7:12638206-12638207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562938512	chr7:12638226-12638227	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369518095	chr7:12638227-12638228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141314730	chr7:12638235-12638236	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548684393	chr7:12638250-12638251	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562067283	chr7:12638253-12638254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28570683	chr7:12638330-12638331	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527890469	chr7:12638360-12638361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs28505574	chr7:12638368-12638369	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs28640194	chr7:12638370-12638371	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181605802	chr7:12638394-12638395	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186736384	chr7:12638395-12638396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139643908	chr7:12638396-12638397	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541826546	chr7:12638414-12638415	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539771458	chr7:12638417-12638418	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114257968	chr7:12638424-12638425	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569647189	chr7:12638484-12638485	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535171107	chr7:12638487-12638488	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555442448	chr7:12638543-12638544	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373931840	chr7:12638555-12638556	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572228835	chr7:12638578-12638579	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534810538	chr7:12638593-12638594	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558013214	chr7:12638603-12638604	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527948434	chr7:12638698-12638699	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577989117	chr7:12638768-12638769	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543758431	chr7:12638792-12638793	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77769673	chr7:12638826-12638827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:12636200-12638800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:12637000-12644000	Weak transcription	K562	blood
6	chr7:12637200-12640200	Weak transcription	Placenta	Placenta
7	chr7:12637800-12638000	Enhancers	Adipose Nuclei	Adipose
8	chr7:12638800-12639000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:12639000-12639200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:12639200-12639800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:12639800-12641400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:12639800-12649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:12640200-12641400	Enhancers	GM12878-XiMat	blood
14	chr7:12641400-12644000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:12642400-12649200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:12642800-12649400	Weak transcription	Adipose Nuclei	Adipose

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