Variant report

Variant	esv3351966
Chromosome Location	chr21:28440931-28442929
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	chr21:28436408..28438545-chr21:28440493..28442382,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143220266	chr21:28440958-28440959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533721892	chr21:28440980-28440981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2830656	chr21:28441023-28441024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188859126	chr21:28441049-28441050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113780973	chr21:28441094-28441095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374536668	chr21:28441099-28441100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138874400	chr21:28441104-28441105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550025756	chr21:28441124-28441125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9980759	chr21:28441145-28441146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538228994	chr21:28441150-28441151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554773907	chr21:28441151-28441152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574826151	chr21:28441152-28441153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141997284	chr21:28441304-28441305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180845498	chr21:28441385-28441386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577495880	chr21:28441447-28441448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529867171	chr21:28441475-28441476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146332665	chr21:28441523-28441524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77151140	chr21:28441528-28441529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574539002	chr21:28441563-28441564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575960333	chr21:28441584-28441585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185987541	chr21:28441606-28441607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138448210	chr21:28441610-28441611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10679757	chr21:28441722-28441723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373745110	chr21:28441723-28441724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386394509	chr21:28441725-28441726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397938176	chr21:28441726-28441727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111433014	chr21:28441747-28441748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9305298	chr21:28441801-28441802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202232243	chr21:28441817-28441818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9305299	chr21:28441825-28441826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10594358	chr21:28441841-28441842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56251600	chr21:28441845-28441846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72465224	chr21:28441881-28441882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111746981	chr21:28441884-28441885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112558216	chr21:28441885-28441886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563967445	chr21:28441965-28441966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532956921	chr21:28441974-28441975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367751010	chr21:28442008-28442009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549848080	chr21:28442030-28442031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2830657	chr21:28442032-28442033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115997180	chr21:28442034-28442035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190443578	chr21:28442063-28442064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182203808	chr21:28442069-28442070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534320818	chr21:28442073-28442074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554307474	chr21:28442104-28442105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186831502	chr21:28442149-28442150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571099486	chr21:28442181-28442182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139955048	chr21:28442182-28442183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201615066	chr21:28442250-28442251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71333119	chr21:28442253-28442254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28440000-28441000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr21:28440600-28441400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:28440800-28441000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:28440800-28441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:28440800-28441000	Enhancers	Ovary	ovary
6	chr21:28441000-28441400	Enhancers	Stomach Smooth Muscle	stomach
7	chr21:28441000-28442200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:28441000-28446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:28441000-28449800	Weak transcription	Ovary	ovary
10	chr21:28441400-28443200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:28442200-28442400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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