Variant report

Variant	esv3333879
Chromosome Location	chr10:1594636-1594872
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	chr10:1592945..1595244-chr10:1605533..1608075,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566791293	chr10:1594637-1594638	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs140515521	chr10:1594672-1594673	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182159577	chr10:1594684-1594685	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs78106950	chr10:1594701-1594702	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs2676763	chr10:1594703-1594704	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1878414	chr10:1594713-1594714	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557474878	chr10:1594730-1594731	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs113208852	chr10:1594731-1594732	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs112288354	chr10:1594736-1594737	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs574002887	chr10:1594779-1594780	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs543215331	chr10:1594799-1594800	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs1878415	chr10:1594800-1594801	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557826991	chr10:1594808-1594809	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs150804510	chr10:1594819-1594820	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs187997084	chr10:1594826-1594827	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs72764963	chr10:1594831-1594832	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs550261781	chr10:1594840-1594841	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs574990086	chr10:1594841-1594842	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs4242727	chr10:1594859-1594860	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4242728	chr10:1594864-1594865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1585200-1594800	Weak transcription	Right Atrium	heart
2	chr10:1593400-1595400	Enhancers	Fetal Muscle Leg	muscle
3	chr10:1593400-1595400	Enhancers	Dnd41	blood
4	chr10:1593800-1596400	Enhancers	Brain Germinal Matrix	brain
5	chr10:1593800-1596600	Enhancers	Fetal Heart	heart
6	chr10:1594000-1594800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:1594400-1594800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:1594400-1594800	Weak transcription	Brain Substantia Nigra	brain
9	chr10:1594400-1594800	Enhancers	Right Ventricle	heart
10	chr10:1594400-1596000	Enhancers	Fetal Brain Female	brain
11	chr10:1594400-1596600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr10:1594600-1595600	Enhancers	Fetal Lung	lung
13	chr10:1594600-1596200	Enhancers	Fetal Brain Male	brain
14	chr10:1594600-1601400	Weak transcription	Fetal Thymus	thymus
15	chr10:1594800-1595000	Enhancers	Right Atrium	heart
16	chr10:1594800-1595200	Enhancers	Brain Substantia Nigra	brain
17	chr10:1594800-1604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:1594800-1604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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