Variant report

Variant	esv2480912
Chromosome Location	chr21:18342342-18346309
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	chr21:18346274..18348529-chr21:18641207..18644043,2	K562	blood:
2	chr21:18341843..18342363-chr3:24310025..24310623,2	MCF-7	breast:

Extended variants
information (count: 290 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558429101	chr21:18342389-18342390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6517721	chr21:18342397-18342398	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545915656	chr21:18342424-18342425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147956338	chr21:18342436-18342437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570511431	chr21:18342439-18342440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34656412	chr21:18342514-18342515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141631352	chr21:18342564-18342565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140236166	chr21:18342600-18342601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553124245	chr21:18342610-18342611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7278113	chr21:18342630-18342631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535450316	chr21:18342639-18342640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555252933	chr21:18342650-18342651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114595011	chr21:18342745-18342746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147094821	chr21:18342815-18342816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543983822	chr21:18342821-18342822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568993975	chr21:18342885-18342886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7278574	chr21:18342941-18342942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112898486	chr21:18342959-18342960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187992380	chr21:18342962-18342963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559431030	chr21:18342991-18342992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567951632	chr21:18343035-18343036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2896927	chr21:18343041-18343042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576645985	chr21:18343060-18343061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73894166	chr21:18343076-18343077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562007265	chr21:18343091-18343092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563942840	chr21:18343104-18343105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181249860	chr21:18343112-18343113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185360388	chr21:18343125-18343126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150211066	chr21:18343136-18343137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376365629	chr21:18343146-18343147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145761747	chr21:18343160-18343161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2896928	chr21:18343179-18343180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535437857	chr21:18343183-18343184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555439158	chr21:18343185-18343186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34970132	chr21:18343198-18343199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537318890	chr21:18343222-18343223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191706784	chr21:18343233-18343234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371423908	chr21:18343260-18343261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2404657	chr21:18343272-18343273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577327300	chr21:18343276-18343277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9977244	chr21:18343286-18343287	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs201070225	chr21:18343287-18343288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545992054	chr21:18343298-18343299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187389047	chr21:18343302-18343303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201205767	chr21:18343307-18343308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573042018	chr21:18343311-18343312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541806081	chr21:18343312-18343313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs118093370	chr21:18343313-18343314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3060720	chr21:18343314-18343315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371680151	chr21:18343339-18343340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	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
Breast cancer	22522925	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18341200-18348600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr21:18342200-18342600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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