Variant report

Variant	esv1006547
Chromosome Location	chr20:24900616-24909178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 402 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6515552	chr20:24900625-24900626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544856725	chr20:24900649-24900650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546350930	chr20:24900730-24900731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4815325	chr20:24900767-24900768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116142638	chr20:24900826-24900827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146420507	chr20:24900856-24900857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4273288	chr20:24900873-24900874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555267750	chr20:24900915-24900916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140951560	chr20:24900919-24900920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552031071	chr20:24900971-24900972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144651472	chr20:24900986-24900987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4815327	chr20:24901004-24901005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547449379	chr20:24901047-24901048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192794743	chr20:24901055-24901056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75296374	chr20:24901057-24901058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11087486	chr20:24901146-24901147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140311637	chr20:24901147-24901148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546820631	chr20:24901156-24901157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566857822	chr20:24901187-24901188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539065959	chr20:24901219-24901220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562712579	chr20:24901221-24901222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7352631	chr20:24901253-24901254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575977729	chr20:24901254-24901255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115349194	chr20:24901265-24901266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138087378	chr20:24901283-24901284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574972108	chr20:24901301-24901302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540318099	chr20:24901303-24901304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545505578	chr20:24901332-24901333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116835541	chr20:24901423-24901424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6076301	chr20:24901424-24901425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11697953	chr20:24901462-24901463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569743593	chr20:24901466-24901467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11697965	chr20:24901500-24901501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562166342	chr20:24901508-24901509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531454931	chr20:24901556-24901557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6036976	chr20:24901567-24901568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142227481	chr20:24901570-24901571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375980638	chr20:24901602-24901603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527540688	chr20:24901610-24901611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146462087	chr20:24901629-24901630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566889140	chr20:24901635-24901636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6036977	chr20:24901668-24901669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs552555074	chr20:24901681-24901682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569280693	chr20:24901790-24901791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538527120	chr20:24901794-24901795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531934302	chr20:24901799-24901800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114072062	chr20:24901808-24901809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372271748	chr20:24901858-24901859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183721059	chr20:24901862-24901863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554360187	chr20:24901905-24901906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Oral cancer	21386901	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24898600-24901400	Enhancers	Placenta	Placenta
2	chr20:24898800-24901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24899200-24901000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:24899200-24902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:24899400-24902000	Enhancers	Ovary	ovary
6	chr20:24899600-24901000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:24899800-24900800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:24900000-24901200	Weak transcription	Fetal Muscle Leg	muscle
9	chr20:24900400-24906400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr20:24900600-24900800	Enhancers	Fetal Lung	lung
11	chr20:24900600-24901200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:24900800-24901200	Weak transcription	Fetal Lung	lung
13	chr20:24900800-24901600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:24901000-24901400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:24901200-24901400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:24901200-24901400	Enhancers	Fetal Muscle Leg	muscle
17	chr20:24901200-24901600	Enhancers	Fetal Lung	lung
18	chr20:24901400-24901600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:24901400-24915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:24907600-24911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:24908600-24908800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr20:24908600-24908800	Enhancers	HSMMtube	muscle
23	chr20:24908600-24911400	Enhancers	Placenta	Placenta
24	chr20:24908600-24912400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr20:24908800-24909400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr20:24908800-24910400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr20:24908800-24911200	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links