Variant report

Variant	nsv519424
Chromosome Location	chr10:6387220-6388928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr10:6388565-6388938	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr10:6388563-6388908	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr10:6388562-6388940	MCF10A-Er-Src	breast:	n/a	n/a
4	NFYA	chr10:6388243-6388341	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:6388781-6388802	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr10:6388528-6389017	MCF10A-Er-Src	breast:	n/a	chr10:6388734-6388745
7	STAT3	chr10:6388557-6388967	MCF10A-Er-Src	breast:	n/a	chr10:6388734-6388745
8	STAT3	chr10:6388329-6388968	MCF10A-Er-Src	breast:	n/a	chr10:6388734-6388745

No.	Distal block	Cell Line	Cell type
1	chr10:6387353..6390083-chr10:6391651..6393610,2	K562	blood:
2	chr10:6388010..6391003-chr10:6392017..6395362,3	MCF-7	breast:
3	chr10:6335618..6337986-chr10:6387023..6389931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212743	TF binding region
ENSG00000212743	chromatin interactions
ENSG00000226705	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2031222	chr10:6387220-6387221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58578084	chr10:6387246-6387247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535981950	chr10:6387249-6387250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557029686	chr10:6387294-6387295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568937197	chr10:6387322-6387323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539430051	chr10:6387331-6387332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144644855	chr10:6387363-6387364	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557698283	chr10:6387384-6387385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs577091984	chr10:6387392-6387393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186096921	chr10:6387405-6387406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370142139	chr10:6387423-6387424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148450463	chr10:6387434-6387435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12241598	chr10:6387494-6387495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572079804	chr10:6387495-6387496	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372280492	chr10:6387496-6387497	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs36175592	chr10:6387524-6387525	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs58698302	chr10:6387527-6387528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141607152	chr10:6387555-6387556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs60955167	chr10:6387558-6387559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541993166	chr10:6387560-6387561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563351989	chr10:6387565-6387566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542779950	chr10:6387585-6387586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371063562	chr10:6387599-6387600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs56789550	chr10:6387600-6387601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564023456	chr10:6387602-6387603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374635371	chr10:6387619-6387620	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376618891	chr10:6387627-6387628	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs61673673	chr10:6387631-6387632	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs71391819	chr10:6387634-6387635	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74200184	chr10:6387635-6387636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs61159320	chr10:6387642-6387643	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370367663	chr10:6387643-6387644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs56365134	chr10:6387647-6387648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371632614	chr10:6387651-6387652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546965706	chr10:6387652-6387653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568681689	chr10:6387655-6387656	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs60847724	chr10:6387677-6387678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs55863196	chr10:6387678-6387679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs57753323	chr10:6387683-6387684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs55858639	chr10:6387697-6387698	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535445091	chr10:6387712-6387713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs56295836	chr10:6387718-6387719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368306164	chr10:6387722-6387723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372594156	chr10:6387733-6387734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550693121	chr10:6387748-6387749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12266469	chr10:6387754-6387755	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142407928	chr10:6387783-6387784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145975318	chr10:6387792-6387793	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs36073897	chr10:6387807-6387808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138509642	chr10:6387864-6387865	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6356000-6388200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:6357200-6397400	Weak transcription	Pancreas	Pancrea
3	chr10:6371600-6389800	Weak transcription	Aorta	Aorta
4	chr10:6371800-6389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:6372000-6387800	Weak transcription	Primary T cells from cord blood	blood
6	chr10:6376400-6387400	Weak transcription	Dnd41	blood
7	chr10:6376800-6389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:6377800-6389200	Weak transcription	Brain Substantia Nigra	brain
9	chr10:6379800-6388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:6382800-6389600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:6384400-6389000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:6385400-6387600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:6385400-6388200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr10:6385600-6389600	Weak transcription	Brain Germinal Matrix	brain
15	chr10:6385800-6389200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:6386000-6388200	Weak transcription	NHDF-Ad	bronchial
17	chr10:6386000-6388800	Weak transcription	Fetal Brain Male	brain
18	chr10:6386000-6389200	Weak transcription	Fetal Brain Female	brain
19	chr10:6386000-6389400	Weak transcription	Placenta	Placenta
20	chr10:6386000-6389400	Weak transcription	Spleen	Spleen
21	chr10:6386000-6390200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:6386400-6387400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:6387000-6389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:6387200-6389200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr10:6387200-6389400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr10:6387400-6388200	Enhancers	Dnd41	blood
27	chr10:6387400-6388600	Weak transcription	HSMMtube	muscle
28	chr10:6387600-6389000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr10:6387600-6389200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr10:6387600-6389200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr10:6387800-6389200	Enhancers	Primary T cells from cord blood	blood
32	chr10:6388000-6389200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr10:6388000-6389200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:6388000-6389400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr10:6388200-6388600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:6388200-6389400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr10:6388200-6389400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:6388200-6389400	Enhancers	Thymus	Thymus
39	chr10:6388200-6389600	Enhancers	NHDF-Ad	bronchial
40	chr10:6388200-6391200	Flanking Active TSS	Dnd41	blood
41	chr10:6388400-6389000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:6388400-6389400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr10:6388400-6389600	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:6388400-6389600	Enhancers	HSMM	muscle
45	chr10:6388600-6388800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr10:6388600-6389400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:6388600-6389400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:6388600-6389400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr10:6388600-6389400	Enhancers	Osteobl	bone
50	chr10:6388600-6389600	Enhancers	Primary B cells from cord blood	blood

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