Variant report

Variant	esv3477118
Chromosome Location	chr7:11331452-11339568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
2	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
3	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
4	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:

Extended variants
information (count: 334 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546873608	chr7:11331458-11331459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560775541	chr7:11331465-11331466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71675941	chr7:11331468-11331469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372366735	chr7:11331471-11331472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187866401	chr7:11331490-11331491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565678482	chr7:11331500-11331501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534695463	chr7:11331510-11331511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191701512	chr7:11331511-11331512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554545941	chr7:11331514-11331515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7785823	chr7:11331537-11331538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548632064	chr7:11331547-11331548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563918049	chr7:11331565-11331566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532995776	chr7:11331568-11331569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146205449	chr7:11331571-11331572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534343179	chr7:11331581-11331582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552851910	chr7:11331609-11331610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572999745	chr7:11331674-11331675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538531950	chr7:11331718-11331719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17164288	chr7:11331729-11331730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184294085	chr7:11331808-11331809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188252361	chr7:11331830-11331831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139112756	chr7:11331859-11331860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574436945	chr7:11331875-11331876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17164290	chr7:11331910-11331911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376197713	chr7:11331933-11331934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117568239	chr7:11331948-11331949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73293762	chr7:11331950-11331951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552868760	chr7:11332043-11332044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563158733	chr7:11332048-11332049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532092931	chr7:11332056-11332057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548595026	chr7:11332064-11332065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200863289	chr7:11332079-11332080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546452154	chr7:11332094-11332095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150504265	chr7:11332160-11332161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573623601	chr7:11332193-11332194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540989887	chr7:11332214-11332215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181071119	chr7:11332269-11332270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185382952	chr7:11332299-11332300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538812889	chr7:11332323-11332324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558360806	chr7:11332324-11332325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80244833	chr7:11332415-11332416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558002684	chr7:11332461-11332462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571857680	chr7:11332489-11332490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139430945	chr7:11332498-11332499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537686579	chr7:11332562-11332563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190678857	chr7:11332574-11332575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7790673	chr7:11332601-11332602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539921723	chr7:11332609-11332610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73293763	chr7:11332618-11332619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17614612	chr7:11332671-11332672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11331000-11334800	Weak transcription	Liver	Liver
2	chr7:11334200-11335000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:11334800-11335000	ZNF genes & repeats	Liver	Liver
4	chr7:11335000-11352800	Weak transcription	Liver	Liver
5	chr7:11336600-11337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:11337000-11337600	Enhancers	Fetal Kidney	kidney
7	chr7:11337200-11337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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