Variant report

Variant	nsv965986
Chromosome Location	chr21:48099596-48104831
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	chr21:48093992..48095617-chr21:48097456..48100225,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576767333	chr21:48099600-48099601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118189563	chr21:48099610-48099611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562616136	chr21:48099701-48099702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184605070	chr21:48099730-48099731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8133567	chr21:48099782-48099783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561550371	chr21:48099806-48099807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139426815	chr21:48099811-48099812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546998581	chr21:48099820-48099821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368271048	chr21:48099829-48099830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538404531	chr21:48099850-48099851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149643846	chr21:48099931-48099932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147317615	chr21:48100034-48100035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187549601	chr21:48100084-48100085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569053728	chr21:48100125-48100126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10483083	chr21:48100155-48100156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs554376187	chr21:48100192-48100193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548004899	chr21:48100263-48100264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554982765	chr21:48100294-48100295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566133185	chr21:48100375-48100376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62224572	chr21:48100388-48100389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs144982806	chr21:48100420-48100421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376699417	chr21:48100424-48100425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558587526	chr21:48100427-48100428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147599110	chr21:48100441-48100442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543920807	chr21:48100442-48100443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562547317	chr21:48100454-48100455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192590903	chr21:48100477-48100478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541964276	chr21:48100645-48100646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140397744	chr21:48100711-48100712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528680174	chr21:48100853-48100854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184868370	chr21:48100861-48100862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565481106	chr21:48100954-48100955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2226384	chr21:48101061-48101062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188366954	chr21:48101111-48101112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181666864	chr21:48101143-48101144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568992379	chr21:48101148-48101149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184317202	chr21:48101179-48101180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373004300	chr21:48101203-48101204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548281530	chr21:48101238-48101239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546374386	chr21:48101288-48101289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566292488	chr21:48101313-48101314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563072056	chr21:48101327-48101328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2839380	chr21:48101335-48101336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs542134940	chr21:48101346-48101347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9984611	chr21:48101370-48101371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536662849	chr21:48101415-48101416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199927762	chr21:48101445-48101446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537833348	chr21:48101458-48101459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560959372	chr21:48101461-48101462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556161847	chr21:48101479-48101480	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48098000-48099800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:48098000-48100600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:48098200-48099600	Enhancers	NHEK	skin
4	chr21:48098800-48101000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:48099600-48099800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:48099600-48100400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:48099600-48100400	Enhancers	K562	blood
8	chr21:48100200-48101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:48100800-48101800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:48101200-48102000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:48101200-48102000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:48101400-48101800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:48101400-48102000	Enhancers	Placenta	Placenta
14	chr21:48101600-48101800	Enhancers	Fetal Lung	lung

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