Variant report

Variant	esv3330332
Chromosome Location	chr8:113422026-113424074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9297474	chr8:113422062-113422063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575326492	chr8:113422112-113422113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541595402	chr8:113422137-113422138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546306079	chr8:113422164-113422165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555420174	chr8:113422174-113422175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183811726	chr8:113422191-113422192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36117875	chr8:113422217-113422218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540632996	chr8:113422247-113422248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564445195	chr8:113422256-113422257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563691029	chr8:113422325-113422326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12677056	chr8:113422382-113422383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188350646	chr8:113422401-113422402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118049575	chr8:113422419-113422420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566128566	chr8:113422499-113422500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112368001	chr8:113422523-113422524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199829727	chr8:113422527-113422528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140735406	chr8:113422581-113422582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568529964	chr8:113422604-113422605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548874262	chr8:113422613-113422614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527746388	chr8:113422654-113422655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34873294	chr8:113422670-113422671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4029455	chr8:113422724-113422725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72161214	chr8:113422725-113422726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193301642	chr8:113422749-113422750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199902677	chr8:113422768-113422769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113854329	chr8:113422824-113422825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539507720	chr8:113422833-113422834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369175036	chr8:113422834-113422835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200988963	chr8:113422838-113422839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568777970	chr8:113422839-113422840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76022247	chr8:113422843-113422844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200328572	chr8:113422845-113422846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376867004	chr8:113422853-113422854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369477671	chr8:113422854-113422855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371128393	chr8:113422855-113422856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373147062	chr8:113422857-113422858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376085496	chr8:113422859-113422860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577110823	chr8:113422864-113422865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11785883	chr8:113422865-113422866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11779112	chr8:113422867-113422868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557911771	chr8:113422869-113422870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71309769	chr8:113422876-113422877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11785886	chr8:113422877-113422878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11779113	chr8:113422881-113422882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372840066	chr8:113422882-113422883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565025244	chr8:113422893-113422894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527633080	chr8:113422905-113422906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369954404	chr8:113422906-113422907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547256395	chr8:113422907-113422908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561172555	chr8:113422917-113422918	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	chr8:113411000-113426400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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