Variant report

Variant	esv3410515
Chromosome Location	chr10:4313727-4315875
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	chr10:3825089..3830045-chr10:4313155..4317076,5	MCF-7	breast:
2	chr10:4311326..4314084-chr10:4320615..4323215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569301916	chr10:4313755-4313756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192241372	chr10:4313882-4313883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147449686	chr10:4313883-4313884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569651955	chr10:4313926-4313927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567088900	chr10:4313941-4313942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116499940	chr10:4313950-4313951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11252429	chr10:4313969-4313970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184347221	chr10:4313993-4313994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374839091	chr10:4313996-4313997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140016658	chr10:4314000-4314001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74324524	chr10:4314006-4314007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558706130	chr10:4314069-4314070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11252430	chr10:4314095-4314096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563811159	chr10:4314115-4314116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116852653	chr10:4314135-4314136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540000856	chr10:4314160-4314161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143902906	chr10:4314195-4314196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529186179	chr10:4314202-4314203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373537053	chr10:4314215-4314216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190414099	chr10:4314236-4314237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182559219	chr10:4314240-4314241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149731534	chr10:4314268-4314269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376672226	chr10:4314291-4314292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147311664	chr10:4314309-4314310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552882455	chr10:4314321-4314322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187171796	chr10:4314322-4314323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386740221	chr10:4314398-4314399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12241362	chr10:4314400-4314401	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534435199	chr10:4314436-4314437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549550512	chr10:4314453-4314454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542494739	chr10:4314489-4314490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139872250	chr10:4314505-4314506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76767052	chr10:4314552-4314553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556545616	chr10:4314620-4314621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56728252	chr10:4314691-4314692	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs57017442	chr10:4314728-4314729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs386370524	chr10:4314736-4314737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs72311229	chr10:4314765-4314766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56902818	chr10:4314770-4314771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs55966612	chr10:4314775-4314776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2065091	chr10:4314783-4314784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373539098	chr10:4314784-4314785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144842786	chr10:4314838-4314839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540105062	chr10:4314842-4314843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11252431	chr10:4314845-4314846	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376528960	chr10:4314866-4314867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148579028	chr10:4314908-4314909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34957303	chr10:4314919-4314920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562591518	chr10:4314945-4314946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371580914	chr10:4314974-4314975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4301600-4316000	Weak transcription	Gastric	stomach
2	chr10:4307800-4321400	Weak transcription	Pancreas	Pancrea
3	chr10:4309600-4323000	Weak transcription	Lung	lung
4	chr10:4309600-4324600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:4310000-4320800	Weak transcription	Fetal Heart	heart
6	chr10:4312200-4313800	Enhancers	HSMMtube	muscle
7	chr10:4312200-4314000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:4312200-4314200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:4312200-4314200	Enhancers	NHDF-Ad	bronchial
10	chr10:4312400-4313800	Enhancers	Rectal Smooth Muscle	rectum
11	chr10:4312400-4314000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:4312600-4315800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:4312800-4313800	Weak transcription	Adipose Nuclei	Adipose
14	chr10:4312800-4321600	Weak transcription	NHLF	lung
15	chr10:4313000-4313800	Enhancers	Colon Smooth Muscle	Colon
16	chr10:4313000-4314000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:4313000-4322600	Weak transcription	HMEC	breast
18	chr10:4313200-4314000	Enhancers	Fetal Brain Male	brain
19	chr10:4313400-4314200	Enhancers	Aorta	Aorta
20	chr10:4313600-4314400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:4313600-4314400	Weak transcription	Ovary	ovary
22	chr10:4313600-4319600	Weak transcription	Fetal Lung	lung
23	chr10:4313600-4321000	Weak transcription	Fetal Muscle Leg	muscle
24	chr10:4313600-4321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:4313800-4314200	Enhancers	Adipose Nuclei	Adipose
26	chr10:4314000-4314200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:4314000-4316000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:4314200-4317200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:4314200-4321600	Weak transcription	Aorta	Aorta
30	chr10:4315800-4316200	Enhancers	Stomach Smooth Muscle	stomach

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