Variant report

Variant	esv33732
Chromosome Location	chr10:4302983-4318917
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	chr10:4311023..4313207-chr10:4318720..4320518,2	K562	blood:
2	chr10:3823986..3829739-chr10:4306109..4310504,8	MCF-7	breast:
3	chr10:4301639..4303870-chr10:4304089..4305971,2	MCF-7	breast:
4	chr10:3783756..3786334-chr10:4310563..4312608,2	MCF-7	breast:
5	chr10:4311023..4313207-chr10:4318720..4320518,2	K562	blood:
6	chr10:4311326..4314084-chr10:4320615..4323215,2	MCF-7	breast:
7	chr10:4304386..4306768-chr10:4318241..4320361,3	MCF-7	breast:
8	chr10:4304386..4306768-chr10:4318241..4320361,3	MCF-7	breast:
9	chr10:3827486..3828068-chr10:4309220..4310177,2	MCF-7	breast:
10	chr10:3825089..3830045-chr10:4313155..4317076,5	MCF-7	breast:
11	chr10:4216133..4216654-chr10:4309278..4309857,2	MCF-7	breast:
12	chr10:4301639..4303870-chr10:4304089..4305971,2	MCF-7	breast:
13	chr10:3825342..3830573-chr10:4304925..4310190,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 758 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74114722	chr10:4302986-4302987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10904213	chr10:4302993-4302994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17132458	chr10:4303052-4303053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556201598	chr10:4303055-4303056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550315158	chr10:4303106-4303107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3934212	chr10:4303110-4303111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75918999	chr10:4303138-4303139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551778937	chr10:4303141-4303142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78378064	chr10:4303144-4303145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146782724	chr10:4303164-4303165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4142671	chr10:4303165-4303166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562139622	chr10:4303181-4303182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574133827	chr10:4303190-4303191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538452990	chr10:4303191-4303192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370468828	chr10:4303223-4303224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7896444	chr10:4303235-4303236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545356764	chr10:4303257-4303258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564144403	chr10:4303270-4303271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572767519	chr10:4303292-4303293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183602625	chr10:4303294-4303295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532891635	chr10:4303309-4303310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186488170	chr10:4303315-4303316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528946167	chr10:4303378-4303379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140626274	chr10:4303402-4303403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562320012	chr10:4303542-4303543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533290016	chr10:4303543-4303544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190920677	chr10:4303601-4303602	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566729671	chr10:4303611-4303612	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182318927	chr10:4303644-4303645	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145375802	chr10:4303683-4303684	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567802971	chr10:4303703-4303704	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527516582	chr10:4303707-4303708	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372494178	chr10:4303718-4303719	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538342541	chr10:4303774-4303775	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556826353	chr10:4303812-4303813	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs115072705	chr10:4303821-4303822	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549116754	chr10:4303823-4303824	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186641949	chr10:4303830-4303831	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs370067184	chr10:4303831-4303832	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs554191754	chr10:4303848-4303849	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs572652245	chr10:4303868-4303869	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191400300	chr10:4303900-4303901	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183221408	chr10:4303909-4303910	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573429491	chr10:4303924-4303925	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs149194714	chr10:4303936-4303937	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562568120	chr10:4303952-4303953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533000561	chr10:4303988-4303989	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs71720706	chr10:4303991-4303992	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs60301960	chr10:4304022-4304023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140120493	chr10:4304030-4304031	Weak transcription Enhancers	n/a	n/a	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:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4296800-4308800	Weak transcription	Psoas Muscle	Psoas
2	chr10:4298200-4305800	Weak transcription	Aorta	Aorta
3	chr10:4300600-4306000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:4300800-4303200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:4301400-4303200	Enhancers	Fetal Stomach	stomach
6	chr10:4301400-4303800	Enhancers	Rectal Smooth Muscle	rectum
7	chr10:4301600-4305800	Weak transcription	Spleen	Spleen
8	chr10:4301600-4316000	Weak transcription	Gastric	stomach
9	chr10:4301800-4303200	Enhancers	Fetal Brain Male	brain
10	chr10:4301800-4303400	Enhancers	Fetal Heart	heart
11	chr10:4301800-4303600	Enhancers	Hela-S3	cervix
12	chr10:4302000-4303200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr10:4302000-4303200	Enhancers	Stomach Smooth Muscle	stomach
14	chr10:4302000-4303200	Enhancers	NHDF-Ad	bronchial
15	chr10:4302000-4303200	Enhancers	Osteobl	bone
16	chr10:4302200-4303000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:4302200-4303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:4302200-4303200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:4302200-4303200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:4302200-4303200	Enhancers	Left Ventricle	heart
21	chr10:4302200-4303200	Enhancers	HUVEC	blood vessel
22	chr10:4302200-4303200	Enhancers	NHLF	lung
23	chr10:4302200-4303400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:4302200-4303400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:4302200-4303400	Enhancers	HSMM	muscle
26	chr10:4302200-4303600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:4302200-4303800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:4302200-4304000	Enhancers	Colon Smooth Muscle	Colon
29	chr10:4302200-4306800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:4302400-4303000	Enhancers	HSMMtube	muscle
31	chr10:4302400-4303200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:4302400-4303200	Enhancers	Fetal Muscle Leg	muscle
33	chr10:4302400-4303200	Enhancers	Small Intestine	intestine
34	chr10:4302400-4303400	Enhancers	NHEK	skin
35	chr10:4302400-4305800	Weak transcription	Lung	lung
36	chr10:4302600-4303000	Enhancers	A549	lung
37	chr10:4302600-4303200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:4302600-4303200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr10:4302600-4303200	Enhancers	HMEC	breast
40	chr10:4302600-4303800	Weak transcription	Pancreas	Pancrea
41	chr10:4302600-4305600	Weak transcription	Ovary	ovary
42	chr10:4302800-4304800	Weak transcription	Right Atrium	heart
43	chr10:4302800-4305800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:4302800-4305800	Weak transcription	Right Ventricle	heart
45	chr10:4303000-4304600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:4303000-4305400	Weak transcription	A549	lung
47	chr10:4303000-4305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:4303200-4304800	Weak transcription	NHDF-Ad	bronchial
49	chr10:4303200-4305200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:4303200-4305400	Weak transcription	NHLF	lung

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