Variant report

Variant	nsv979590
Chromosome Location	chr21:15716014-15727420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15725007..15727450-chr21:15727478..15730890,3	K562	blood:
2	chr21:15721000..15722814-chr21:15730165..15732273,2	K562	blood:
3	chr21:15725447..15727391-chr21:15735609..15737943,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187185823	chr21:15725610-15725611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2205254	chr21:15725642-15725643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544123969	chr21:15725657-15725658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141024831	chr21:15725694-15725695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113998430	chr21:15725702-15725703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540323978	chr21:15725722-15725723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79439970	chr21:15725733-15725734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559784664	chr21:15725734-15725735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs398101490	chr21:15725735-15725736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528894066	chr21:15725739-15725740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536268012	chr21:15725744-15725745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571045596	chr21:15725746-15725747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373563631	chr21:15725805-15725806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532024385	chr21:15725819-15725820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2822618	chr21:15725868-15725869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571815528	chr21:15725885-15725886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376667576	chr21:15725933-15725934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527853374	chr21:15725987-15725988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547884642	chr21:15725996-15725997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13048016	chr21:15726002-15726003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs536672107	chr21:15726093-15726094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190119533	chr21:15726134-15726135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73157759	chr21:15726155-15726156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2822619	chr21:15726161-15726162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199684367	chr21:15726173-15726174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113953828	chr21:15726193-15726194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200806659	chr21:15726299-15726300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538150688	chr21:15726404-15726405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557718946	chr21:15726412-15726413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577787519	chr21:15726439-15726440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540041895	chr21:15726443-15726444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8127673	chr21:15726466-15726467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573400627	chr21:15726486-15726487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141833220	chr21:15726506-15726507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199772145	chr21:15726522-15726523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150329079	chr21:15726527-15726528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562154334	chr21:15726539-15726540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182742837	chr21:15726551-15726552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373638725	chr21:15726559-15726560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188719630	chr21:15726581-15726582	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Sudden cardiac death	19188705	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
Breast cancer	20409316	CNVD
Autism	18414403	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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15725600-15726600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:15725800-15726000	Enhancers	Fetal Stomach	stomach
3	chr21:15726000-15726400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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