Variant report

Variant	esv3514204
Chromosome Location	chr20:24649208-24650079
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	chr20:24645110..24646856-chr20:24648654..24651485,2	MCF-7	breast:
2	chr20:24616131..24617827-chr20:24647064..24649863,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368609764	chr20:24649211-24649212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13040668	chr20:24649213-24649214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13039543	chr20:24649287-24649288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540081387	chr20:24649297-24649298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555554560	chr20:24649299-24649300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187912736	chr20:24649309-24649310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199870964	chr20:24649319-24649320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13040844	chr20:24649320-24649321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544722223	chr20:24649336-24649337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192199930	chr20:24649373-24649374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185784998	chr20:24649476-24649477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112110546	chr20:24649492-24649493	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560374942	chr20:24649515-24649516	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371531009	chr20:24649597-24649598	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552267387	chr20:24649621-24649622	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188004695	chr20:24649664-24649665	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35129087	chr20:24649665-24649666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369462664	chr20:24649687-24649688	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35737177	chr20:24649705-24649706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147158237	chr20:24649707-24649708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376001636	chr20:24649738-24649739	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192473415	chr20:24649831-24649832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539545790	chr20:24649876-24649877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34025188	chr20:24649923-24649924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2092622	chr20:24649932-24649933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372866819	chr20:24649972-24649973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555697708	chr20:24649973-24649974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141234071	chr20:24650000-24650001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs73905427	chr20:24650004-24650005	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34439537	chr20:24650007-24650008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150811041	chr20:24650025-24650026	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570183001	chr20:24650044-24650045	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528907248	chr20:24650045-24650046	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139195655	chr20:24650068-24650069	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550268163	chr20:24650079-24650080	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24639000-24650400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:24641200-24654000	Weak transcription	Aorta	Aorta
3	chr20:24641400-24649400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:24641800-24649800	Weak transcription	Right Ventricle	heart
5	chr20:24643400-24649400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:24643400-24661400	Weak transcription	Right Atrium	heart
7	chr20:24645800-24657200	Weak transcription	Brain Anterior Caudate	brain
8	chr20:24646200-24649400	Weak transcription	Fetal Muscle Leg	muscle
9	chr20:24646400-24650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:24646400-24657200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr20:24646600-24657400	Weak transcription	Brain Substantia Nigra	brain
12	chr20:24646800-24657200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr20:24646800-24657400	Weak transcription	Brain Angular Gyrus	brain
14	chr20:24647600-24653800	Weak transcription	Brain Hippocampus Middle	brain
15	chr20:24648600-24649400	Enhancers	Spleen	Spleen
16	chr20:24649000-24657200	Weak transcription	Gastric	stomach
17	chr20:24649400-24649600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:24649400-24649800	Flanking Active TSS	Spleen	Spleen
19	chr20:24649400-24655600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:24649600-24650000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:24649800-24650000	Enhancers	Spleen	Spleen
22	chr20:24650000-24650200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:24650000-24650200	Flanking Active TSS	Spleen	Spleen
24	chr20:24650000-24650600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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