Variant report

Variant	esv3451013
Chromosome Location	chr8:52859964-52860228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563700038	chr8:52859964-52859965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372232116	chr8:52859965-52859966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200682255	chr8:52859996-52859997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540262452	chr8:52860018-52860019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189093006	chr8:52860026-52860027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577057067	chr8:52860036-52860037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117298810	chr8:52860083-52860084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181543467	chr8:52860086-52860087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59579750	chr8:52860087-52860088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543330379	chr8:52860093-52860094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75452322	chr8:52860097-52860098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529358444	chr8:52860144-52860145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546631524	chr8:52860152-52860153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55932409	chr8:52860154-52860155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569732843	chr8:52860172-52860173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367621197	chr8:52860173-52860174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532648224	chr8:52860203-52860204	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7813414	chr8:52860205-52860206	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569054364	chr8:52860213-52860214	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12674891	chr8:52860220-52860221	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548387173	chr8:52860225-52860226	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
3	chr8:52850000-52860400	Weak transcription	Right Ventricle	heart
4	chr8:52850200-52860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:52850200-52868000	Weak transcription	Primary B cells from cord blood	blood
6	chr8:52852000-52870000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:52852200-52866000	Weak transcription	Left Ventricle	heart
8	chr8:52852600-52861000	Weak transcription	Adipose Nuclei	Adipose
9	chr8:52852600-52862400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:52852600-52867600	Weak transcription	Fetal Kidney	kidney
11	chr8:52852800-52861000	Weak transcription	Fetal Stomach	stomach
12	chr8:52852800-52867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:52856800-52865200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:52858200-52861000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:52858400-52860600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:52859000-52860400	Enhancers	Pancreas	Pancrea
17	chr8:52859200-52860800	Enhancers	Fetal Thymus	thymus
18	chr8:52859600-52860400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:52859600-52863800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:52859800-52866600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:52860200-52861200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:52860200-52861200	Enhancers	Fetal Muscle Leg	muscle

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