Variant report

Variant	esv3458730
Chromosome Location	chr10:4293489-4311565
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	chr10:3824875..3826995-chr10:4293449..4295482,2	MCF-7	breast:
2	chr10:3827486..3828068-chr10:4309220..4310177,2	MCF-7	breast:
3	chr10:4311326..4314084-chr10:4320615..4323215,2	MCF-7	breast:
4	chr10:4311023..4313207-chr10:4318720..4320518,2	K562	blood:
5	chr10:4301639..4303870-chr10:4304089..4305971,2	MCF-7	breast:
6	chr10:3826008..3828712-chr10:4299777..4301639,2	MCF-7	breast:
7	chr10:3825342..3830573-chr10:4304925..4310190,7	MCF-7	breast:
8	chr10:4216133..4216654-chr10:4309278..4309857,2	MCF-7	breast:
9	chr10:4301639..4303870-chr10:4304089..4305971,2	MCF-7	breast:
10	chr10:4304386..4306768-chr10:4318241..4320361,3	MCF-7	breast:
11	chr10:4243895..4246337-chr10:4299306..4301962,2	MCF-7	breast:
12	chr10:3783756..3786334-chr10:4310563..4312608,2	MCF-7	breast:
13	chr10:3823986..3829739-chr10:4306109..4310504,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 858 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568937439	chr10:4293497-4293498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375309419	chr10:4293518-4293519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142176483	chr10:4293539-4293540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551205395	chr10:4293540-4293541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181110365	chr10:4293577-4293578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533865152	chr10:4293603-4293604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76800567	chr10:4293629-4293630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141470494	chr10:4293632-4293633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538257987	chr10:4293646-4293647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556235540	chr10:4293649-4293650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578150964	chr10:4293683-4293684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545509231	chr10:4293702-4293703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554452621	chr10:4293721-4293722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147009728	chr10:4293774-4293775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542820459	chr10:4293788-4293789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184134448	chr10:4293817-4293818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1535445	chr10:4293842-4293843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531863770	chr10:4293850-4293851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139077983	chr10:4293994-4293995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534702889	chr10:4293995-4293996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562338374	chr10:4294006-4294007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189264504	chr10:4294038-4294039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1535446	chr10:4294054-4294055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566365868	chr10:4294056-4294057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57262331	chr10:4294070-4294071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1535447	chr10:4294071-4294072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548875702	chr10:4294097-4294098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78255774	chr10:4294101-4294102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537706377	chr10:4294105-4294106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550189010	chr10:4294117-4294118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571665688	chr10:4294122-4294123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539162288	chr10:4294140-4294141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74738696	chr10:4294156-4294157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559969931	chr10:4294157-4294158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74692376	chr10:4294164-4294165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536857761	chr10:4294168-4294169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554824822	chr10:4294175-4294176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545805093	chr10:4294218-4294219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150389681	chr10:4294244-4294245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181532791	chr10:4294251-4294252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564133036	chr10:4294272-4294273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368964649	chr10:4294282-4294283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138229446	chr10:4294313-4294314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562065516	chr10:4294364-4294365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112282004	chr10:4294372-4294373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544573459	chr10:4294401-4294402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559835286	chr10:4294409-4294410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1535448	chr10:4294411-4294412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376384042	chr10:4294440-4294441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549167996	chr10:4294470-4294471	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:398 , 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	chr10:4291600-4293600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:4291600-4294400	Enhancers	HMEC	breast
10	chr10:4291600-4294600	Enhancers	NHEK	skin
11	chr10:4292200-4296400	Weak transcription	NH-A	brain
12	chr10:4292400-4296200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:4292600-4293800	Weak transcription	Esophagus	oesophagus
14	chr10:4292600-4295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:4292600-4295000	Weak transcription	Osteobl	bone
16	chr10:4292600-4295200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:4292600-4295200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:4292600-4295400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:4292600-4296200	Weak transcription	Psoas Muscle	Psoas
20	chr10:4292600-4296200	Weak transcription	NHLF	lung
21	chr10:4292600-4297400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:4292600-4298000	Weak transcription	Aorta	Aorta
23	chr10:4292800-4301800	Weak transcription	Hela-S3	cervix
24	chr10:4293000-4293600	Weak transcription	NHDF-Ad	bronchial
25	chr10:4293000-4294400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:4293000-4297800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:4293000-4298000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:4293600-4294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:4293600-4297600	Enhancers	NHDF-Ad	bronchial
30	chr10:4293800-4294400	Enhancers	Esophagus	oesophagus
31	chr10:4294400-4294800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:4294400-4297200	Weak transcription	HMEC	breast
33	chr10:4294400-4297400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:4294800-4296600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:4295000-4297000	Enhancers	Osteobl	bone
36	chr10:4295000-4297400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:4295200-4297000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:4295200-4297600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:4295400-4295600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:4295600-4296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:4295600-4296800	Enhancers	Fetal Muscle Trunk	muscle
42	chr10:4296000-4297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:4296200-4296600	Enhancers	HSMMtube	muscle
44	chr10:4296200-4296800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:4296200-4296800	Enhancers	Fetal Muscle Leg	muscle
46	chr10:4296200-4296800	Enhancers	Psoas Muscle	Psoas
47	chr10:4296200-4296800	Enhancers	NHLF	lung
48	chr10:4296200-4297000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr10:4296400-4296800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:4296400-4296800	Enhancers	Adipose Nuclei	Adipose

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