Variant report

Variant	esv3380026
Chromosome Location	chr21:17546131-17548179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190687163	chr21:17546182-17546183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568188518	chr21:17546218-17546219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536832028	chr21:17546222-17546223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556844633	chr21:17546226-17546227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181978389	chr21:17546248-17546249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139771565	chr21:17546249-17546250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558648149	chr21:17546274-17546275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144986911	chr21:17546276-17546277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541097171	chr21:17546280-17546281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561033325	chr21:17546285-17546286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574631468	chr21:17546305-17546306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150929446	chr21:17546384-17546385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140749848	chr21:17546385-17546386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368872300	chr21:17546400-17546401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543709974	chr21:17546403-17546404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557279679	chr21:17546463-17546464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532263308	chr21:17546602-17546603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546093871	chr21:17546628-17546629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559058823	chr21:17546640-17546641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116616171	chr21:17546759-17546760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548241479	chr21:17546763-17546764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9984292	chr21:17546846-17546847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564574292	chr21:17546854-17546855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530627052	chr21:17546876-17546877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550356879	chr21:17546879-17546880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575947482	chr21:17546886-17546887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570248188	chr21:17546892-17546893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543852999	chr21:17546941-17546942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536197118	chr21:17546970-17546971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184482238	chr21:17546999-17547000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145519603	chr21:17547005-17547006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189001881	chr21:17547021-17547022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181359253	chr21:17547055-17547056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111346911	chr21:17547085-17547086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4818260	chr21:17547100-17547101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554588719	chr21:17547152-17547153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7281053	chr21:17547166-17547167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7277202	chr21:17547176-17547177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541624715	chr21:17547201-17547202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7275630	chr21:17547226-17547227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2823624	chr21:17547227-17547228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559580966	chr21:17547245-17547246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371915282	chr21:17547257-17547258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561437129	chr21:17547284-17547285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541800918	chr21:17547315-17547316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1543773	chr21:17547321-17547322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530343178	chr21:17547361-17547362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530587152	chr21:17547395-17547396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550719537	chr21:17547396-17547397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147710878	chr21:17547405-17547406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17527200-17553000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17542200-17548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:17543200-17551200	Weak transcription	A549	lung
4	chr21:17543400-17552600	Weak transcription	Brain Anterior Caudate	brain
5	chr21:17543400-17553000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr21:17545000-17548400	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links