Variant report

Variant	esv3433577
Chromosome Location	chr7:11218752-11221350
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	ATF1	chr7:11221045-11221594	K562	blood:	n/a	n/a
2	CREB1	chr7:11221129-11221613	K562	blood:	n/a	n/a
3	IRF1	chr7:11219213-11219338	K562	blood:	n/a	n/a
4	JUN	chr7:11221203-11221495	K562	blood:	n/a	n/a
5	REST	chr7:11221321-11221532	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr7:11221238-11221617	MCF-7	breast:	n/a	n/a
7	REST	chr7:11221307-11221478	K562	blood:	n/a	n/a
8	REST	chr7:11221312-11221541	K562	blood:	n/a	n/a
9	REST	chr7:11221322-11221526	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF274	chr7:11219051-11219611	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230333	TF binding region

Extended variants
information (count: 166 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192388548	chr7:11218765-11218766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117031652	chr7:11218783-11218784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185601153	chr7:11218835-11218836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555798321	chr7:11218852-11218853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544397058	chr7:11218867-11218868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75052411	chr7:11218892-11218893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145205714	chr7:11218899-11218900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111678218	chr7:11218911-11218912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6951444	chr7:11218986-11218987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs565504974	chr7:11218990-11218991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564374467	chr7:11219006-11219007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9639079	chr7:11219013-11219014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144337051	chr7:11219034-11219035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9648134	chr7:11219048-11219049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528858635	chr7:11219060-11219061	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs181863926	chr7:11219070-11219071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563641995	chr7:11219096-11219097	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs185179984	chr7:11219131-11219132	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6971457	chr7:11219155-11219156	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567309088	chr7:11219172-11219173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs188513019	chr7:11219188-11219189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs146565076	chr7:11219190-11219191	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181324292	chr7:11219196-11219197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566555462	chr7:11219212-11219213	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs538637817	chr7:11219213-11219214	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558868407	chr7:11219239-11219240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs140025567	chr7:11219241-11219242	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185195711	chr7:11219242-11219243	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555158614	chr7:11219259-11219260	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs527420678	chr7:11219266-11219267	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538672424	chr7:11219297-11219298	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574904599	chr7:11219316-11219317	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189751656	chr7:11219334-11219335	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567322244	chr7:11219341-11219342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs181003774	chr7:11219377-11219378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528135985	chr7:11219392-11219393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs537584190	chr7:11219406-11219407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs9638668	chr7:11219423-11219424	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9639080	chr7:11219442-11219443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs142733110	chr7:11219448-11219449	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533166678	chr7:11219462-11219463	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs71536841	chr7:11219483-11219484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9638669	chr7:11219491-11219492	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs9639081	chr7:11219492-11219493	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374038574	chr7:11219517-11219518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547111383	chr7:11219545-11219546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs9639082	chr7:11219558-11219559	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs202044796	chr7:11219583-11219584	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201968460	chr7:11219585-11219586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs573572367	chr7:11219589-11219590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11207000-11226000	Weak transcription	Gastric	stomach
2	chr7:11218000-11222200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:11220800-11221600	Enhancers	HepG2	liver

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