Variant report

Variant	esv3356232
Chromosome Location	chr8:113317176-113323174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 224 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113360774	chr8:113317185-113317186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368392630	chr8:113317186-113317187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546812858	chr8:113317194-113317195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144588079	chr8:113317198-113317199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568181083	chr8:113317256-113317257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546667223	chr8:113317327-113317328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560873687	chr8:113317370-113317371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190713434	chr8:113317398-113317399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543189987	chr8:113317511-113317512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182277633	chr8:113317566-113317567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377455989	chr8:113317567-113317568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186547882	chr8:113317574-113317575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538397961	chr8:113317575-113317576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548312126	chr8:113317652-113317653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112259833	chr8:113317686-113317687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568160014	chr8:113317709-113317710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533814013	chr8:113317742-113317743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371200683	chr8:113317745-113317746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576563815	chr8:113317829-113317830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553473901	chr8:113317893-113317894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577097457	chr8:113317938-113317939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539374120	chr8:113317965-113317966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556390327	chr8:113317972-113317973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575835397	chr8:113317991-113317992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192779023	chr8:113318003-113318004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143833564	chr8:113318011-113318012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117816908	chr8:113318027-113318028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540648200	chr8:113318039-113318040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1420859	chr8:113318058-113318059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532500192	chr8:113318071-113318072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552602777	chr8:113318089-113318090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183190776	chr8:113318090-113318091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113848533	chr8:113318094-113318095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146844220	chr8:113318096-113318097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548792987	chr8:113318099-113318100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550515953	chr8:113318119-113318120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113028869	chr8:113318196-113318197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568198575	chr8:113318199-113318200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372292161	chr8:113318221-113318222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376353166	chr8:113318244-113318245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371695907	chr8:113318258-113318259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539159188	chr8:113318276-113318277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199622097	chr8:113318294-113318295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143979095	chr8:113318298-113318299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371771248	chr8:113318343-113318344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143305992	chr8:113318349-113318350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148324568	chr8:113318351-113318352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561177908	chr8:113318367-113318368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530231442	chr8:113318369-113318370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188528250	chr8:113318376-113318377	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113288800-113331400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113322400-113324600	Enhancers	Dnd41	blood

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