Variant report

Variant	esv3426410
Chromosome Location	chr10:1589618-1590111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369949552	chr10:1589661-1589662	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553094204	chr10:1589664-1589665	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573071831	chr10:1589665-1589666	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2813351	chr10:1589683-1589684	Weak transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12764629	chr10:1589704-1589705	Weak transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34669311	chr10:1589730-1589731	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35409214	chr10:1589750-1589751	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34244771	chr10:1589755-1589756	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543826958	chr10:1589762-1589763	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7476572	chr10:1589778-1589779	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3956256	chr10:1589794-1589795	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12414351	chr10:1589804-1589805	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80163091	chr10:1589808-1589809	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4002379	chr10:1589823-1589824	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10903475	chr10:1589828-1589829	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563816001	chr10:1589840-1589841	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375998302	chr10:1589851-1589852	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79974964	chr10:1589881-1589882	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7084358	chr10:1589895-1589896	Weak transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs80036234	chr10:1589896-1589897	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79517270	chr10:1589901-1589902	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76449471	chr10:1589918-1589919	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80142046	chr10:1589919-1589920	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549320709	chr10:1589925-1589926	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559863069	chr10:1589927-1589928	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3956257	chr10:1589938-1589939	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552086655	chr10:1589952-1589953	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571600245	chr10:1589954-1589955	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112760185	chr10:1590004-1590005	ZNF genes & repeats Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536696020	chr10:1590037-1590038	ZNF genes & repeats Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367699844	chr10:1590087-1590088	ZNF genes & repeats Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550114749	chr10:1590104-1590105	ZNF genes & repeats Active TSS Weak transcription Genic 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1585200-1594800	Weak transcription	Right Atrium	heart
2	chr10:1586800-1590000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1588000-1589800	Active TSS	Brain Substantia Nigra	brain
4	chr10:1588000-1590800	Active TSS	Brain Anterior Caudate	brain
5	chr10:1588000-1591200	Weak transcription	Fetal Brain Male	brain
6	chr10:1588400-1590800	Genic enhancers	Dnd41	blood
7	chr10:1588800-1592000	Weak transcription	Fetal Thymus	thymus
8	chr10:1589200-1593800	Weak transcription	Brain Germinal Matrix	brain
9	chr10:1589800-1594200	Weak transcription	Brain Substantia Nigra	brain
10	chr10:1590000-1591000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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