Variant report

Variant	esv2494410
Chromosome Location	chr7:13242029-13243520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4255030	chr7:13242038-13242039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182229918	chr7:13242042-13242043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372227302	chr7:13242044-13242045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551148524	chr7:13242052-13242053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145029899	chr7:13242073-13242074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138861817	chr7:13242076-13242077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141493598	chr7:13242077-13242078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150872403	chr7:13242118-13242119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538606478	chr7:13242151-13242152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186392406	chr7:13242191-13242192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139377300	chr7:13242228-13242229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544125799	chr7:13242241-13242242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573715562	chr7:13242257-13242258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34713473	chr7:13242262-13242263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397959500	chr7:13242268-13242269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554347381	chr7:13242287-13242288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77351086	chr7:13242331-13242332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2357159	chr7:13242350-13242351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559988120	chr7:13242376-13242377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4582441	chr7:13242389-13242390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548008656	chr7:13242408-13242409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117105498	chr7:13242418-13242419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376344328	chr7:13242420-13242421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74187754	chr7:13242427-13242428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550822192	chr7:13242446-13242447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190804251	chr7:13242457-13242458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530286706	chr7:13242468-13242469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181595671	chr7:13242498-13242499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546610875	chr7:13242554-13242555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185723534	chr7:13242589-13242590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190092758	chr7:13242593-13242594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565544975	chr7:13242594-13242595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28847753	chr7:13242595-13242596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559104426	chr7:13242597-13242598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79836551	chr7:13242599-13242600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370360390	chr7:13242600-13242601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147332369	chr7:13242601-13242602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574315790	chr7:13242602-13242603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537135971	chr7:13242603-13242604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376705089	chr7:13242605-13242606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553687639	chr7:13242606-13242607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532707694	chr7:13242612-13242613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556749137	chr7:13242614-13242615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182926318	chr7:13242616-13242617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530775929	chr7:13242617-13242618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376784477	chr7:13242627-13242628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373703523	chr7:13242628-13242629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548101919	chr7:13242629-13242630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377331361	chr7:13242631-13242632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371307315	chr7:13242635-13242636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13241600-13243000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:13243000-13244400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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