Variant report

Variant	esv1209571
Chromosome Location	chr10:1415944-1415977
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	chr10:1402501..1404466-chr10:1415279..1418172,2	K562	blood:

Variant related genes	Relation type
ENSG00000233052	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71379115	chr10:1415944-1415945	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538016599	chr10:1415953-1415954	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386739833	chr10:1415954-1415955	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11250476	chr10:1415955-1415956	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71494954	chr10:1415968-1415969	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12768188	chr10:1415976-1415977	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1404800-1419600	Weak transcription	Right Atrium	heart
2	chr10:1412200-1416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1412200-1417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:1412200-1417800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:1412200-1418000	Weak transcription	Brain Substantia Nigra	brain
6	chr10:1412200-1420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:1412200-1421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:1412400-1417800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:1412400-1421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr10:1415800-1416000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:1415800-1417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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