Variant report

Variant	esv3359704
Chromosome Location	chr10:1437852-1441550
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	chr10:1441499..1444025-chr10:1444943..1447669,3	MCF-7	breast:
2	chr10:1439393..1442041-chr10:1448217..1450840,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572784597	chr10:1437870-1437871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544723285	chr10:1437887-1437888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2820595	chr10:1437915-1437916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139054291	chr10:1437922-1437923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377246073	chr10:1437931-1437932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149879843	chr10:1437945-1437946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369776674	chr10:1437947-1437948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529941943	chr10:1437983-1437984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561000386	chr10:1438011-1438012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560233481	chr10:1438025-1438026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541189883	chr10:1438041-1438042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532440045	chr10:1438088-1438089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551447428	chr10:1438103-1438104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571324851	chr10:1438127-1438128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192046932	chr10:1438177-1438178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550690982	chr10:1438192-1438193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185113612	chr10:1438198-1438199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111662258	chr10:1438226-1438227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144934496	chr10:1438239-1438240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549989278	chr10:1438252-1438253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76290553	chr10:1438253-1438254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570045623	chr10:1438259-1438260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7092825	chr10:1438282-1438283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539326657	chr10:1438345-1438346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373898382	chr10:1438348-1438349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189579679	chr10:1438400-1438401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575333605	chr10:1438412-1438413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544302675	chr10:1438418-1438419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554739471	chr10:1438436-1438437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55764467	chr10:1438448-1438449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540008199	chr10:1438451-1438452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375029764	chr10:1438465-1438466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560306262	chr10:1438502-1438503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187553844	chr10:1438541-1438542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4322312	chr10:1438549-1438550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546102176	chr10:1438553-1438554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12779875	chr10:1438597-1438598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530851111	chr10:1438609-1438610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529756972	chr10:1438621-1438622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561090146	chr10:1438627-1438628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77304473	chr10:1438659-1438660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112640259	chr10:1438670-1438671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546835106	chr10:1438678-1438679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181175006	chr10:1438705-1438706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375880733	chr10:1438706-1438707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534906913	chr10:1438730-1438731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538934670	chr10:1438731-1438732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184409814	chr10:1438755-1438756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188225904	chr10:1438762-1438763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537881922	chr10:1438765-1438766	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1437200-1439000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1437600-1442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:1438400-1438600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1439000-1442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1440800-1442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:1441200-1443000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:1441400-1442400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:1441400-1442400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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