Variant report

Variant	esv1850905
Chromosome Location	chr8:113363350-113364696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201565194	chr8:113363350-113363351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546980761	chr8:113363362-113363363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138115844	chr8:113363375-113363376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11984540	chr8:113363386-113363387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375301025	chr8:113363388-113363389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370415381	chr8:113363392-113363393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552746978	chr8:113363407-113363408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147756726	chr8:113363456-113363457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373562939	chr8:113363457-113363458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149221662	chr8:113363468-113363469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569342310	chr8:113363487-113363488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370825242	chr8:113363488-113363489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202160346	chr8:113363492-113363493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183473748	chr8:113363494-113363495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143594360	chr8:113363507-113363508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7003500	chr8:113363511-113363512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187211391	chr8:113363516-113363517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367602476	chr8:113363522-113363523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536137241	chr8:113363578-113363579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190753011	chr8:113363640-113363641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556349477	chr8:113363652-113363653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182266256	chr8:113363656-113363657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544749083	chr8:113363722-113363723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150120274	chr8:113363855-113363856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7837177	chr8:113363861-113363862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574957009	chr8:113363941-113363942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540633364	chr8:113363958-113363959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560246981	chr8:113364045-113364046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60340602	chr8:113364102-113364103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528839694	chr8:113364123-113364124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57308072	chr8:113364131-113364132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552592665	chr8:113364155-113364156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533064654	chr8:113364181-113364182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563132459	chr8:113364208-113364209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56138373	chr8:113364240-113364241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548345823	chr8:113364282-113364283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149254066	chr8:113364314-113364315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558294868	chr8:113364316-113364317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533600501	chr8:113364340-113364341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144438791	chr8:113364460-113364461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570347408	chr8:113364534-113364535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539745404	chr8:113364542-113364543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556172243	chr8:113364557-113364558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11775013	chr8:113364574-113364575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs535670244	chr8:113364578-113364579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368062940	chr8:113364613-113364614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369403966	chr8:113364624-113364625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371828132	chr8:113364636-113364637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201408699	chr8:113364650-113364651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540722188	chr8:113364663-113364664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113350000-113378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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