Variant report

Variant	esv3451852
Chromosome Location	chr8:112771976-112776274
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	chr8:112765107..112767231-chr8:112771782..112773764,2	K562	blood:

Extended variants
information (count: 160 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188210371	chr8:112771977-112771978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541205435	chr8:112772000-112772001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36038030	chr8:112772046-112772047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577654674	chr8:112772077-112772078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574319823	chr8:112772094-112772095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75168282	chr8:112772095-112772096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375621727	chr8:112772099-112772100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7826876	chr8:112772128-112772129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143442841	chr8:112772161-112772162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114773859	chr8:112772180-112772181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7843377	chr8:112772240-112772241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551075843	chr8:112772261-112772262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533230523	chr8:112772266-112772267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7843064	chr8:112772290-112772291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191055993	chr8:112772344-112772345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371979709	chr8:112772407-112772408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10216588	chr8:112772417-112772418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148173907	chr8:112772444-112772445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369133739	chr8:112772456-112772457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566029255	chr8:112772466-112772467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535024354	chr8:112772509-112772510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531831360	chr8:112772525-112772526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368033117	chr8:112772541-112772542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557888549	chr8:112772557-112772558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79025380	chr8:112772560-112772561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565242804	chr8:112772562-112772563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141998947	chr8:112772570-112772571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7843611	chr8:112772579-112772580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573687223	chr8:112772644-112772645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542620542	chr8:112772655-112772656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559440377	chr8:112772715-112772716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535656845	chr8:112772727-112772728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146895306	chr8:112772856-112772857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545333638	chr8:112772948-112772949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564885935	chr8:112773060-112773061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375853579	chr8:112773139-112773140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115369129	chr8:112773154-112773155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549972990	chr8:112773177-112773178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548084722	chr8:112773194-112773195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377092678	chr8:112773195-112773196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116791626	chr8:112773251-112773252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529394198	chr8:112773264-112773265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548956281	chr8:112773267-112773268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35524994	chr8:112773271-112773272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72141971	chr8:112773272-112773273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67454025	chr8:112773281-112773282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377716172	chr8:112773282-112773283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183764856	chr8:112773351-112773352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10955598	chr8:112773363-112773364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553135774	chr8:112773396-112773397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112768000-112778600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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