Variant report

Variant	esv2476373
Chromosome Location	chr21:28836748-28838334
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	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
2	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540012118	chr21:28836755-28836756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538568665	chr21:28836756-28836757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376832544	chr21:28836811-28836812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558703812	chr21:28836829-28836830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149718139	chr21:28836848-28836849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs242336	chr21:28836862-28836863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117805468	chr21:28837029-28837030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182271491	chr21:28837038-28837039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115229864	chr21:28837043-28837044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112533668	chr21:28837102-28837103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537847161	chr21:28837137-28837138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553131933	chr21:28837157-28837158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573442392	chr21:28837158-28837159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545297712	chr21:28837175-28837176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs242337	chr21:28837297-28837298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575447023	chr21:28837313-28837314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144637905	chr21:28837315-28837316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542092785	chr21:28837357-28837358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553713905	chr21:28837406-28837407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572219457	chr21:28837452-28837453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190841109	chr21:28837489-28837490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370528786	chr21:28837562-28837563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540187295	chr21:28837589-28837590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2830959	chr21:28837629-28837630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148477586	chr21:28837737-28837738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376450831	chr21:28837803-28837804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551726610	chr21:28837804-28837805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552516663	chr21:28837805-28837806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78939477	chr21:28837820-28837821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34027655	chr21:28837821-28837822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569210792	chr21:28837842-28837843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531512928	chr21:28837856-28837857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567739712	chr21:28837888-28837889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367622230	chr21:28837972-28837973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536355494	chr21:28837980-28837981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553284194	chr21:28838064-28838065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183394628	chr21:28838101-28838102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373077715	chr21:28838124-28838125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531688919	chr21:28838138-28838139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13051499	chr21:28838159-28838160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188227311	chr21:28838178-28838179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544394788	chr21:28838198-28838199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554875950	chr21:28838219-28838220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574429645	chr21:28838232-28838233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539977521	chr21:28838253-28838254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374576567	chr21:28838260-28838261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34458666	chr21:28838331-28838332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Gastric cancer	18160780	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28835200-28837000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:28835800-28836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:28836400-28837600	Enhancers	NHEK	skin
4	chr21:28836800-28837800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:28837800-28838600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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