Variant report

Variant	esv3351490
Chromosome Location	chr8:65069586-65069991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529098066	chr8:65069664-65069665	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548729238	chr8:65069677-65069678	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538643450	chr8:65069702-65069703	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147046392	chr8:65069736-65069737	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537518821	chr8:65069794-65069795	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558138848	chr8:65069814-65069815	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368513253	chr8:65069848-65069849	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17312403	chr8:65069907-65069908	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs73686882	chr8:65069956-65069957	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65060600-65070200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:65060800-65074000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:65063600-65069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:65069400-65070000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr8:65069600-65069800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr8:65069600-65069800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr8:65069600-65070000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
8	chr8:65069600-65070000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr8:65069600-65071800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:65069600-65072000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:65069800-65070000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr8:65069800-65070200	Enhancers	Brain Germinal Matrix	brain
13	chr8:65069800-65071800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:65069800-65071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:65069800-65072200	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links