Variant report

Variant	esv3412323
Chromosome Location	chr10:1600677-1601035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112435024	chr10:1600684-1600685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1878413	chr10:1600686-1600687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182081363	chr10:1600687-1600688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186679293	chr10:1600688-1600689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112581700	chr10:1600698-1600699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190396619	chr10:1600702-1600703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56367148	chr10:1600717-1600718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554579692	chr10:1600744-1600745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547119460	chr10:1600745-1600746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181256782	chr10:1600761-1600762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540365793	chr10:1600770-1600771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56191235	chr10:1600776-1600777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377282585	chr10:1600780-1600781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111473212	chr10:1600781-1600782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370755974	chr10:1600785-1600786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2944720	chr10:1600801-1600802	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs12769719	chr10:1600811-1600812	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs12767649	chr10:1600844-1600845	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs2676740	chr10:1600857-1600858	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs545937005	chr10:1600860-1600861	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs12769051	chr10:1600861-1600862	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs2813360	chr10:1600863-1600864	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs12769053	chr10:1600867-1600868	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs114508128	chr10:1600898-1600899	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs113154789	chr10:1600899-1600900	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs111962480	chr10:1600902-1600903	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs377156015	chr10:1600903-1600904	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs2813361	chr10:1600951-1600952	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111589593	chr10:1600952-1600953	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs12769934	chr10:1600957-1600958	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs2813362	chr10:1600961-1600962	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs12767862	chr10:1600962-1600963	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs530026602	chr10:1600974-1600975	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs2005346	chr10:1600979-1600980	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546734254	chr10:1601012-1601013	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs12772748	chr10:1601013-1601014	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs12774982	chr10:1601021-1601022	Enhancers Weak transcription Bivalent Enhancer	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	chr10:1594600-1601400	Weak transcription	Fetal Thymus	thymus
2	chr10:1594800-1604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:1594800-1604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1595000-1601600	Weak transcription	Right Atrium	heart
5	chr10:1595400-1609200	Weak transcription	Dnd41	blood
6	chr10:1600400-1601600	Weak transcription	Spleen	Spleen
7	chr10:1600800-1602400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr10:1601000-1601200	Enhancers	Brain Cingulate Gyrus	brain
9	chr10:1601000-1601800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:1601000-1602400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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