Variant report

Variant	esv3401522
Chromosome Location	chr20:24314352-24317050
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	chr20:24311140..24313044-chr20:24313684..24316218,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76311342	chr20:24314370-24314371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559568978	chr20:24314402-24314403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527298262	chr20:24314410-24314411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181673325	chr20:24314415-24314416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564337175	chr20:24314517-24314518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533317190	chr20:24314528-24314529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186795035	chr20:24314532-24314533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143960342	chr20:24314590-24314591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529337215	chr20:24314643-24314644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549199826	chr20:24314646-24314647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565913613	chr20:24314659-24314660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535008391	chr20:24314661-24314662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189573366	chr20:24314671-24314672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181170086	chr20:24314691-24314692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117643056	chr20:24314692-24314693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556513831	chr20:24314753-24314754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556682077	chr20:24314777-24314778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148646989	chr20:24314792-24314793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6049603	chr20:24314841-24314842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6114662	chr20:24314889-24314890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6114663	chr20:24314962-24314963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553224329	chr20:24314969-24314970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6114664	chr20:24314975-24314976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573039234	chr20:24315008-24315009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143248043	chr20:24315027-24315028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565139781	chr20:24315031-24315032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547263380	chr20:24315037-24315038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575446047	chr20:24315042-24315043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543838962	chr20:24315088-24315089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78530761	chr20:24315091-24315092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6049604	chr20:24315092-24315093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549038390	chr20:24315127-24315128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6049605	chr20:24315129-24315130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545772028	chr20:24315169-24315170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58363412	chr20:24315184-24315185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571957946	chr20:24315232-24315233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146740347	chr20:24315248-24315249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550576712	chr20:24315299-24315300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567240983	chr20:24315322-24315323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536366568	chr20:24315327-24315328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554457962	chr20:24315352-24315353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372415934	chr20:24315354-24315355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148417798	chr20:24315376-24315377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573237705	chr20:24315377-24315378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553061130	chr20:24315418-24315419	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573076327	chr20:24315419-24315420	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538872824	chr20:24315420-24315421	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558463022	chr20:24315424-24315425	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142563521	chr20:24315426-24315427	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575529870	chr20:24315441-24315442	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24299800-24317800	Weak transcription	Thymus	Thymus
2	chr20:24312800-24315400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:24312800-24317800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:24313000-24315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:24313200-24315800	Enhancers	NHEK	skin
6	chr20:24313600-24315800	Enhancers	HMEC	breast
7	chr20:24314000-24317800	Weak transcription	Primary T cells from cord blood	blood
8	chr20:24314200-24317600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:24315000-24315200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr20:24315200-24316400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr20:24315400-24315800	Enhancers	Fetal Brain Male	brain
12	chr20:24315400-24315800	ZNF genes & repeats	Pancreas	Pancrea
13	chr20:24315400-24317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:24315600-24315800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:24315600-24315800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:24315800-24316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:24315800-24316800	Weak transcription	NHEK	skin
18	chr20:24315800-24317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:24315800-24317400	Weak transcription	HMEC	breast
20	chr20:24316400-24319800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr20:24316800-24317400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:24316800-24322600	Enhancers	NHEK	skin

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