Variant report

Variant	esv3313986
Chromosome Location	chr10:18999408-19005520
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	chr10:18998369..19000630-chr10:19002071..19003757,2	MCF-7	breast:
2	chr10:18998369..19000630-chr10:19002071..19003757,2	MCF-7	breast:

Extended variants
information (count: 192 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538465425	chr10:18999453-18999454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186701237	chr10:18999454-18999455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370825091	chr10:18999508-18999509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17702272	chr10:18999511-18999512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578254576	chr10:18999554-18999555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538632067	chr10:18999562-18999563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574444544	chr10:18999563-18999564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112310150	chr10:18999568-18999569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541960630	chr10:18999582-18999583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553874731	chr10:18999593-18999594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113296527	chr10:18999678-18999679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572411324	chr10:18999682-18999683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141729819	chr10:18999695-18999696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564303837	chr10:18999720-18999721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562618752	chr10:18999756-18999757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183346763	chr10:19001418-19001419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12244359	chr10:19001433-19001434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550767260	chr10:19001434-19001435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140239736	chr10:19001478-19001479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188557026	chr10:19001483-19001484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543895619	chr10:19001500-19001501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192742092	chr10:19001559-19001560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529480764	chr10:19001564-19001565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368276029	chr10:19001604-19001605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145288629	chr10:19001617-19001618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577003832	chr10:19001621-19001622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560027166	chr10:19001634-19001635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533446467	chr10:19001662-19001663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551405443	chr10:19001697-19001698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541312667	chr10:19001699-19001700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137981528	chr10:19001716-19001717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10829264	chr10:19001727-19001728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548636390	chr10:19001753-19001754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529673962	chr10:19001764-19001765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11015827	chr10:19001771-19001772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567147217	chr10:19001802-19001803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534537502	chr10:19001835-19001836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552876529	chr10:19001852-19001853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571557711	chr10:19001876-19001877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564329778	chr10:19001887-19001888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538509769	chr10:19001911-19001912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143122953	chr10:19001931-19001932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576469855	chr10:19001941-19001942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533478037	chr10:19001976-19001977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370833095	chr10:19001980-19001981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555922732	chr10:19001982-19001983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574164536	chr10:19001994-19001995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148250317	chr10:19001998-19001999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559685541	chr10:19002031-19002032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570156600	chr10:19002046-19002047	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18999400-18999800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:19001400-19002000	Enhancers	Fetal Intestine Small	intestine
3	chr10:19001400-19003000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:19001600-19002600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:19001600-19002600	Enhancers	Fetal Intestine Large	intestine
6	chr10:19001800-19002200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:19001800-19002200	Enhancers	NH-A	brain
8	chr10:19001800-19002600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:19001800-19002600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:19001800-19002600	Enhancers	NHDF-Ad	bronchial
11	chr10:19001800-19002600	Enhancers	NHEK	skin
12	chr10:19001800-19002600	Enhancers	Osteobl	bone
13	chr10:19001800-19002800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:19001800-19002800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:19001800-19002800	Enhancers	Hela-S3	cervix
16	chr10:19001800-19002800	Enhancers	HMEC	breast
17	chr10:19002000-19002200	Enhancers	HSMM	muscle
18	chr10:19002000-19002400	Enhancers	A549	lung
19	chr10:19002000-19002400	Enhancers	HepG2	liver
20	chr10:19002000-19002600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr10:19002600-19008600	Weak transcription	Fetal Intestine Large	intestine
22	chr10:19002800-19007800	Weak transcription	Hela-S3	cervix
23	chr10:19004200-19004400	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links