Variant report

Variant	nsv523363
Chromosome Location	chr8:62240033-62245784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 233 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:233 , 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	rs1386220	chr8:62240033-62240034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553993372	chr8:62240056-62240057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186222441	chr8:62240057-62240058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116063978	chr8:62240106-62240107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141685703	chr8:62240152-62240153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59138066	chr8:62240191-62240192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150525512	chr8:62240225-62240226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1486657	chr8:62240287-62240288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139286603	chr8:62240321-62240322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565978547	chr8:62240355-62240356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527781722	chr8:62240365-62240366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4033663	chr8:62240377-62240378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576498008	chr8:62240400-62240401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200253474	chr8:62240437-62240438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4144412	chr8:62240450-62240451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4033662	chr8:62240455-62240456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559877623	chr8:62240471-62240472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530278969	chr8:62240511-62240512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548854972	chr8:62240549-62240550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143208368	chr8:62240564-62240565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528340542	chr8:62240608-62240609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531234980	chr8:62240658-62240659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368613227	chr8:62240685-62240686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28731014	chr8:62240689-62240690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570891837	chr8:62240726-62240727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190588894	chr8:62240728-62240729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111589446	chr8:62240780-62240781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533124789	chr8:62240783-62240784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181377987	chr8:62240792-62240793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs118171524	chr8:62240814-62240815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10429345	chr8:62240848-62240849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576226071	chr8:62240857-62240858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536967807	chr8:62240858-62240859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558117613	chr8:62240882-62240883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147543817	chr8:62240889-62240890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79503791	chr8:62240927-62240928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559223770	chr8:62240939-62240940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191050258	chr8:62240941-62240942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536164423	chr8:62240945-62240946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183850299	chr8:62240961-62240962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531214209	chr8:62241037-62241038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10429447	chr8:62241050-62241051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548036031	chr8:62241051-62241052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528533572	chr8:62241082-62241083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75443161	chr8:62241090-62241091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140206222	chr8:62241097-62241098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373908897	chr8:62241099-62241100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536238043	chr8:62241125-62241126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187978275	chr8:62241148-62241149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529245613	chr8:62241165-62241166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62238000-62243400	Weak transcription	Fetal Brain Male	brain
2	chr8:62239000-62240400	Enhancers	GM12878-XiMat	blood
3	chr8:62240800-62241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:62241000-62241400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:62241200-62241600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:62243400-62244800	Enhancers	Fetal Brain Male	brain
7	chr8:62243400-62245000	Enhancers	Adipose Nuclei	Adipose
8	chr8:62244600-62245000	Enhancers	Fetal Muscle Leg	muscle
9	chr8:62244800-62248800	Weak transcription	Fetal Brain Male	brain
10	chr8:62245000-62248400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:62245600-62246400	Enhancers	Rectal Mucosa Donor 31	rectum

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