Variant report

Variant	esv3350961
Chromosome Location	chr10:1695703-1695885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78254650	chr10:1695703-1695704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199771726	chr10:1695726-1695727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117896715	chr10:1695729-1695730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562737856	chr10:1695731-1695732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117389972	chr10:1695734-1695735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557044346	chr10:1695735-1695736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114786282	chr10:1695740-1695741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10903537	chr10:1695751-1695752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10903538	chr10:1695756-1695757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536466872	chr10:1695760-1695761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114324639	chr10:1695763-1695764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs376155068	chr10:1695764-1695765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201707434	chr10:1695772-1695773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550049049	chr10:1695801-1695802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569823098	chr10:1695803-1695804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73587121	chr10:1695804-1695805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111638390	chr10:1695805-1695806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535558073	chr10:1695814-1695815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12767490	chr10:1695825-1695826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12767498	chr10:1695830-1695831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534645558	chr10:1695841-1695842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370669406	chr10:1695878-1695879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1688800-1697200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:1689200-1700000	Weak transcription	Brain Substantia Nigra	brain
3	chr10:1691400-1697000	Weak transcription	GM12878-XiMat	blood
4	chr10:1693600-1698400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:1695200-1697400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1695200-1700600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:1695200-1700800	Weak transcription	Fetal Brain Female	brain
8	chr10:1695200-1704000	Weak transcription	Spleen	Spleen
9	chr10:1695400-1712000	Weak transcription	Gastric	stomach

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