Variant report

Variant	nsv522540
Chromosome Location	chr10:4343047-4348396
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	chr10:4345271..4346802-chr10:4347547..4349820,2	MCF-7	breast:
2	chr10:4345271..4346802-chr10:4347547..4349820,2	MCF-7	breast:

Extended variants
information (count: 274 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7086185	chr10:4343047-4343048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528167154	chr10:4343064-4343065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560185549	chr10:4343102-4343103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547508211	chr10:4343103-4343104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192234578	chr10:4343129-4343130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185025263	chr10:4343166-4343167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567293726	chr10:4343199-4343200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531706641	chr10:4343206-4343207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188545733	chr10:4343209-4343210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11252452	chr10:4343214-4343215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17132554	chr10:4343215-4343216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567903106	chr10:4343233-4343234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529012458	chr10:4343248-4343249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566255138	chr10:4343256-4343257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11813559	chr10:4343285-4343286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs72766415	chr10:4343302-4343303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573647794	chr10:4343305-4343306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17353967	chr10:4343318-4343319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367679775	chr10:4343340-4343341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558114505	chr10:4343348-4343349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556273481	chr10:4343425-4343426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371403073	chr10:4343433-4343434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577816203	chr10:4343456-4343457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59484440	chr10:4343481-4343482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189514105	chr10:4343490-4343491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139031285	chr10:4343499-4343500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542477723	chr10:4343606-4343607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560980160	chr10:4343608-4343609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111353223	chr10:4343704-4343705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549906955	chr10:4343713-4343714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565222622	chr10:4343725-4343726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566901129	chr10:4343737-4343738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35565853	chr10:4343767-4343768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147485757	chr10:4343771-4343772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376055931	chr10:4343805-4343806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547680405	chr10:4343817-4343818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79620836	chr10:4343833-4343834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182572294	chr10:4343837-4343838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372243468	chr10:4343840-4343841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187098118	chr10:4343852-4343853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537838971	chr10:4343878-4343879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556334823	chr10:4343892-4343893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368340907	chr10:4343924-4343925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538698238	chr10:4343942-4343943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7071086	chr10:4343964-4343965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7087506	chr10:4343982-4343983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201545663	chr10:4343993-4343994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1926792	chr10:4343995-4343996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78398422	chr10:4344038-4344039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373914457	chr10:4344128-4344129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4334800-4349200	Weak transcription	Right Atrium	heart
2	chr10:4337800-4345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:4337800-4349200	Weak transcription	Fetal Heart	heart
4	chr10:4338800-4343600	Weak transcription	Fetal Brain Male	brain
5	chr10:4342600-4344000	Enhancers	Fetal Lung	lung
6	chr10:4342800-4350600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:4343000-4344400	Enhancers	NHDF-Ad	bronchial
8	chr10:4343200-4344400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:4343400-4344000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:4343400-4344000	Enhancers	Rectal Smooth Muscle	rectum
11	chr10:4343600-4344400	Enhancers	Fetal Brain Male	brain
12	chr10:4344000-4345000	Weak transcription	Fetal Lung	lung
13	chr10:4344000-4348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:4344400-4344800	Weak transcription	NHDF-Ad	bronchial
15	chr10:4344400-4345000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:4344400-4349200	Weak transcription	Fetal Brain Male	brain
17	chr10:4344800-4345400	Enhancers	NHDF-Ad	bronchial
18	chr10:4345000-4345200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr10:4345000-4345200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:4345000-4345400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr10:4345000-4345400	Enhancers	Fetal Lung	lung
22	chr10:4345000-4345600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:4345200-4345400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:4345200-4345400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:4345200-4345400	Enhancers	Psoas Muscle	Psoas
26	chr10:4345200-4345400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr10:4345200-4345400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr10:4345400-4348200	Weak transcription	Fetal Lung	lung
29	chr10:4345400-4351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:4345400-4352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:4345600-4346800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:4346800-4348200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:4347600-4349200	Weak transcription	Psoas Muscle	Psoas
34	chr10:4348000-4348200	Enhancers	Fetal Muscle Leg	muscle
35	chr10:4348000-4348200	Enhancers	Left Ventricle	heart
36	chr10:4348000-4350400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:4348000-4350800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr10:4348200-4348400	Enhancers	Small Intestine	intestine
39	chr10:4348200-4349200	Weak transcription	Left Ventricle	heart
40	chr10:4348200-4350600	Enhancers	Fetal Lung	lung
41	chr10:4348200-4357200	Weak transcription	Fetal Muscle Leg	muscle

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