Variant report

Variant	esv3413754
Chromosome Location	chr10:1644786-1645352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1636416..1638763-chr10:1644116..1645883,2	K562	blood:
2	chr10:1637263..1639781-chr10:1644116..1647024,2	K562	blood:
3	chr10:1643971..1645583-chr10:1650285..1653262,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12268177	chr10:1644866-1644867	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs147827766	chr10:1644890-1644891	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs537983860	chr10:1644891-1644892	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs555043682	chr10:1644892-1644893	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs74203820	chr10:1644894-1644895	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs57066959	chr10:1644897-1644898	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs543523997	chr10:1644898-1644899	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs373058045	chr10:1644902-1644903	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs376291380	chr10:1644903-1644904	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs563345865	chr10:1644932-1644933	Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs567707199	chr10:1645001-1645002	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12767033	chr10:1645019-1645020	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12783946	chr10:1645022-1645023	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12240301	chr10:1645025-1645026	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs12761101	chr10:1645044-1645045	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12761103	chr10:1645046-1645047	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553582803	chr10:1645051-1645052	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573365440	chr10:1645077-1645078	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371363895	chr10:1645134-1645135	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs180996160	chr10:1645135-1645136	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528375751	chr10:1645147-1645148	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146661194	chr10:1645154-1645155	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs200883208	chr10:1645162-1645163	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114517131	chr10:1645174-1645175	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570490574	chr10:1645177-1645178	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540584062	chr10:1645191-1645192	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112359885	chr10:1645206-1645207	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs146666296	chr10:1645213-1645214	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs386739874	chr10:1645214-1645215	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113506260	chr10:1645215-1645216	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200023703	chr10:1645216-1645217	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577094928	chr10:1645218-1645219	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138800849	chr10:1645222-1645223	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570095084	chr10:1645224-1645225	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535675183	chr10:1645230-1645231	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375663419	chr10:1645238-1645239	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572693433	chr10:1645239-1645240	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs146609517	chr10:1645242-1645243	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557816436	chr10:1645260-1645261	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs201546629	chr10:1645264-1645265	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200162518	chr10:1645269-1645270	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543400038	chr10:1645275-1645276	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563238757	chr10:1645276-1645277	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs111676935	chr10:1645283-1645284	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573674228	chr10:1645291-1645292	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs60795111	chr10:1645293-1645294	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531928838	chr10:1645296-1645297	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs373799756	chr10:1645312-1645313	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs56957716	chr10:1645313-1645314	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372210221	chr10:1645322-1645323	Weak transcription Enhancers Bivalent/Poised TSS	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1634600-1648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1643000-1645000	Bivalent Enhancer	Fetal Lung	lung
3	chr10:1643200-1645200	Weak transcription	Esophagus	oesophagus
4	chr10:1644000-1644800	Weak transcription	Fetal Brain Male	brain
5	chr10:1644200-1644800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:1644600-1648600	Weak transcription	Fetal Thymus	thymus
7	chr10:1644800-1645000	Genic enhancers	H9 Cell Line	embryonic stem cell
8	chr10:1644800-1645000	Active TSS	Fetal Brain Male	brain
9	chr10:1644800-1645200	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr10:1644800-1645200	Active TSS	NHDF-Ad	bronchial
11	chr10:1645000-1645200	Bivalent Enhancer	Fetal Brain Male	brain
12	chr10:1645000-1645400	Bivalent/Poised TSS	Fetal Lung	lung
13	chr10:1645000-1648400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:1645200-1645400	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links