Variant report

Variant	esv3329452
Chromosome Location	chr8:57982348-57985946
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	chr8:57983788..57988460-chr8:57989645..57992930,4	K562	blood:

Extended variants
information (count: 177 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs35313827	chr8:57982357-57982358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113754584	chr8:57982359-57982360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377646844	chr8:57982366-57982367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143047252	chr8:57982403-57982404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151164480	chr8:57982413-57982414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574189785	chr8:57982420-57982421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377090511	chr8:57982440-57982441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140219703	chr8:57982467-57982468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35166114	chr8:57982468-57982469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12550068	chr8:57982487-57982488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572474733	chr8:57982493-57982494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542991728	chr8:57982495-57982496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12550071	chr8:57982539-57982540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73681827	chr8:57982567-57982568	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564569579	chr8:57982571-57982572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530713125	chr8:57982656-57982657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544221688	chr8:57982676-57982677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561097296	chr8:57982761-57982762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191179123	chr8:57982785-57982786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4541915	chr8:57982790-57982791	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566193686	chr8:57982791-57982792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145762478	chr8:57982810-57982811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551777633	chr8:57982868-57982869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183346650	chr8:57982915-57982916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537739333	chr8:57982921-57982922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550810431	chr8:57982982-57982983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187899032	chr8:57983012-57983013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138422874	chr8:57983018-57983019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536464544	chr8:57983025-57983026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73681828	chr8:57983085-57983086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572582824	chr8:57983206-57983207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192416399	chr8:57983233-57983234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11776524	chr8:57983246-57983247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574903044	chr8:57983265-57983266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74886758	chr8:57983300-57983301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368051356	chr8:57983344-57983345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369917668	chr8:57983345-57983346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529862736	chr8:57983356-57983357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540037853	chr8:57983365-57983366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538661857	chr8:57983366-57983367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560417003	chr8:57983391-57983392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143013777	chr8:57983418-57983419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373141468	chr8:57983484-57983485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551943786	chr8:57983520-57983521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571624975	chr8:57983521-57983522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530811849	chr8:57983555-57983556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551225121	chr8:57983558-57983559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568978634	chr8:57983592-57983593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567851174	chr8:57983603-57983604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536982751	chr8:57983631-57983632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57978800-57982400	Enhancers	Stomach Mucosa	stomach
2	chr8:57981200-57982400	Enhancers	HUVEC	blood vessel
3	chr8:57981600-57988600	Weak transcription	Pancreas	Pancrea
4	chr8:57982000-57982400	Enhancers	Adipose Nuclei	Adipose
5	chr8:57982000-57982800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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