Variant report

Variant	nsv1037897
Chromosome Location	chr10:4294071-4311585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4301639..4303870-chr10:4304089..4305971,2	MCF-7	breast:
2	chr10:4311326..4314084-chr10:4320615..4323215,2	MCF-7	breast:
3	chr10:4216133..4216654-chr10:4309278..4309857,2	MCF-7	breast:
4	chr10:3824875..3826995-chr10:4293449..4295482,2	MCF-7	breast:
5	chr10:3825342..3830573-chr10:4304925..4310190,7	MCF-7	breast:
6	chr10:3826008..3828712-chr10:4299777..4301639,2	MCF-7	breast:
7	chr10:4304386..4306768-chr10:4318241..4320361,3	MCF-7	breast:
8	chr10:4243895..4246337-chr10:4299306..4301962,2	MCF-7	breast:
9	chr10:3827486..3828068-chr10:4309220..4310177,2	MCF-7	breast:
10	chr10:4301639..4303870-chr10:4304089..4305971,2	MCF-7	breast:
11	chr10:3823986..3829739-chr10:4306109..4310504,8	MCF-7	breast:
12	chr10:4311023..4313207-chr10:4318720..4320518,2	K562	blood:
13	chr10:3783756..3786334-chr10:4310563..4312608,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 834 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1535447	chr10:4294071-4294072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548875702	chr10:4294097-4294098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78255774	chr10:4294101-4294102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537706377	chr10:4294105-4294106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550189010	chr10:4294117-4294118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571665688	chr10:4294122-4294123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539162288	chr10:4294140-4294141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74738696	chr10:4294156-4294157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559969931	chr10:4294157-4294158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74692376	chr10:4294164-4294165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536857761	chr10:4294168-4294169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554824822	chr10:4294175-4294176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545805093	chr10:4294218-4294219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150389681	chr10:4294244-4294245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181532791	chr10:4294251-4294252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564133036	chr10:4294272-4294273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368964649	chr10:4294282-4294283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138229446	chr10:4294313-4294314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562065516	chr10:4294364-4294365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112282004	chr10:4294372-4294373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544573459	chr10:4294401-4294402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559835286	chr10:4294409-4294410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1535448	chr10:4294411-4294412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376384042	chr10:4294440-4294441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549167996	chr10:4294470-4294471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560915535	chr10:4294474-4294475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78399159	chr10:4294500-4294501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549784630	chr10:4294514-4294515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370803288	chr10:4294541-4294542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567411697	chr10:4294547-4294548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539057984	chr10:4294565-4294566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547768410	chr10:4294583-4294584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540312404	chr10:4294586-4294587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566187521	chr10:4294593-4294594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536339637	chr10:4294613-4294614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562004014	chr10:4294623-4294624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72776601	chr10:4294735-4294736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146133701	chr10:4294767-4294768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187614531	chr10:4294771-4294772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374173881	chr10:4294842-4294843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191856878	chr10:4294850-4294851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180997082	chr10:4294855-4294856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138943644	chr10:4294876-4294877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542353918	chr10:4294877-4294878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34045626	chr10:4294895-4294896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569543600	chr10:4294904-4294905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376382162	chr10:4294936-4294937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142293622	chr10:4294965-4294966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372027187	chr10:4294970-4294971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112090252	chr10:4294972-4294973	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	21293372	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4285600-4296200	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:4286000-4294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:4286800-4296200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:4289400-4301400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:4289600-4296400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:4290000-4297800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:4291000-4296400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:4291600-4294400	Enhancers	HMEC	breast
9	chr10:4291600-4294600	Enhancers	NHEK	skin
10	chr10:4292200-4296400	Weak transcription	NH-A	brain
11	chr10:4292400-4296200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:4292600-4295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:4292600-4295000	Weak transcription	Osteobl	bone
14	chr10:4292600-4295200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:4292600-4295200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:4292600-4295400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:4292600-4296200	Weak transcription	Psoas Muscle	Psoas
18	chr10:4292600-4296200	Weak transcription	NHLF	lung
19	chr10:4292600-4297400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:4292600-4298000	Weak transcription	Aorta	Aorta
21	chr10:4292800-4301800	Weak transcription	Hela-S3	cervix
22	chr10:4293000-4294400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:4293000-4297800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:4293000-4298000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:4293600-4294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:4293600-4297600	Enhancers	NHDF-Ad	bronchial
27	chr10:4293800-4294400	Enhancers	Esophagus	oesophagus
28	chr10:4294400-4294800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:4294400-4297200	Weak transcription	HMEC	breast
30	chr10:4294400-4297400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:4294800-4296600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:4295000-4297000	Enhancers	Osteobl	bone
33	chr10:4295000-4297400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:4295200-4297000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:4295200-4297600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr10:4295400-4295600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:4295600-4296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:4295600-4296800	Enhancers	Fetal Muscle Trunk	muscle
39	chr10:4296000-4297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:4296200-4296600	Enhancers	HSMMtube	muscle
41	chr10:4296200-4296800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:4296200-4296800	Enhancers	Fetal Muscle Leg	muscle
43	chr10:4296200-4296800	Enhancers	Psoas Muscle	Psoas
44	chr10:4296200-4296800	Enhancers	NHLF	lung
45	chr10:4296200-4297000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr10:4296400-4296800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:4296400-4296800	Enhancers	Adipose Nuclei	Adipose
48	chr10:4296400-4297000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr10:4296400-4297400	Enhancers	NH-A	brain
50	chr10:4296600-4296800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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