Variant report

Variant	esv3351649
Chromosome Location	chr8:113433026-113435024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551932677	chr8:113433027-113433028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60665686	chr8:113433066-113433067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552198129	chr8:113433067-113433068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560153383	chr8:113433079-113433080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569801770	chr8:113433087-113433088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532336818	chr8:113433149-113433150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143689715	chr8:113433150-113433151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148091813	chr8:113433152-113433153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371882722	chr8:113433153-113433154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190303993	chr8:113433173-113433174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566219333	chr8:113433233-113433234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536319895	chr8:113433244-113433245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552965672	chr8:113433249-113433250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182541852	chr8:113433395-113433396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567582718	chr8:113433404-113433405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11374817	chr8:113433405-113433406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11408637	chr8:113433414-113433415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75598443	chr8:113433415-113433416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538992166	chr8:113433423-113433424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536871270	chr8:113433428-113433429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186867869	chr8:113433446-113433447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556467532	chr8:113433460-113433461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559202891	chr8:113433497-113433498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192149542	chr8:113433512-113433513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185162020	chr8:113433524-113433525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188877278	chr8:113433526-113433527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555156883	chr8:113433567-113433568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142732583	chr8:113433569-113433570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146280616	chr8:113433600-113433601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370268237	chr8:113433607-113433608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560216142	chr8:113433617-113433618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6469416	chr8:113433643-113433644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545818781	chr8:113433699-113433700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562809987	chr8:113433719-113433720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193235575	chr8:113433742-113433743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201734073	chr8:113433787-113433788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201954071	chr8:113433789-113433790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200249909	chr8:113433790-113433791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66685516	chr8:113433791-113433792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386413701	chr8:113433798-113433799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10631418	chr8:113433799-113433800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7832207	chr8:113433808-113433809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28727929	chr8:113433841-113433842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567880381	chr8:113433863-113433864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28709192	chr8:113433879-113433880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184510795	chr8:113433886-113433887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546668270	chr8:113433993-113433994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35844752	chr8:113434015-113434016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188273144	chr8:113434059-113434060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539016046	chr8:113434064-113434065	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113426800-113443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113434600-113435000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:113434600-113435400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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