Variant report

Variant	esv1800861
Chromosome Location	chr8:115350400-115365897
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	chr8:115360876..115362417-chr8:115396298..115399107,2	K562	blood:

Extended variants
information (count: 229 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:229 , 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	rs10955705	chr8:115350400-115350401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537873619	chr8:115350413-115350414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554595735	chr8:115350433-115350434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112877195	chr8:115350470-115350471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200964200	chr8:115350542-115350543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190970510	chr8:115350631-115350632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537095548	chr8:115350653-115350654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145620955	chr8:115350671-115350672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576933080	chr8:115350677-115350678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373429130	chr8:115350699-115350700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553157576	chr8:115350731-115350732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550848161	chr8:115350745-115350746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574639167	chr8:115350768-115350769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542156176	chr8:115350778-115350779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147756894	chr8:115350803-115350804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10091463	chr8:115350817-115350818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs545860650	chr8:115350850-115350851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574653403	chr8:115350868-115350869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181369879	chr8:115350884-115350885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528614765	chr8:115350906-115350907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546863501	chr8:115350973-115350974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5894202	chr8:115351056-115351057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557455855	chr8:115351058-115351059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397730683	chr8:115351062-115351063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397780718	chr8:115351063-115351064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553605365	chr8:115351075-115351076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141948718	chr8:115351159-115351160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377237622	chr8:115351227-115351228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542379521	chr8:115351232-115351233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529556481	chr8:115351303-115351304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143044609	chr8:115351307-115351308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543595301	chr8:115351321-115351322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151163133	chr8:115351376-115351377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558654837	chr8:115351415-115351416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570428708	chr8:115351438-115351439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370524054	chr8:115351453-115351454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79723620	chr8:115351466-115351467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552890867	chr8:115351483-115351484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187002468	chr8:115351487-115351488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191143721	chr8:115351491-115351492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78875079	chr8:115351499-115351500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140164894	chr8:115351502-115351503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575207224	chr8:115351573-115351574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183450917	chr8:115351599-115351600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150327390	chr8:115351608-115351609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563498114	chr8:115351616-115351617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564539799	chr8:115351643-115351644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573247785	chr8:115351645-115351646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111875275	chr8:115351662-115351663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540767715	chr8:115351696-115351697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115350200-115355400	Weak transcription	Fetal Lung	lung
2	chr8:115354400-115355800	Active TSS	Brain Anterior Caudate	brain
3	chr8:115355400-115355600	Enhancers	Fetal Lung	lung

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