Variant report

Variant	nsv912787
Chromosome Location	chr20:15275538-15309089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15279663..15281630-chr20:15285386..15287786,2	MCF-7	breast:
2	chr20:15280200..15282422-chr20:15286811..15288380,2	MCF-7	breast:
3	chr20:15280200..15282422-chr20:15286811..15288380,2	MCF-7	breast:
4	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:
5	chr20:15279663..15281630-chr20:15285386..15287786,2	MCF-7	breast:
6	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:

Extended variants
information (count: 1158 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1158 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7272442	chr20:15275538-15275539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190960829	chr20:15275564-15275565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542190768	chr20:15275576-15275577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563049998	chr20:15275577-15275578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560421877	chr20:15275615-15275616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572497845	chr20:15275632-15275633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531819254	chr20:15275662-15275663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6079736	chr20:15275712-15275713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147691559	chr20:15275734-15275735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531754732	chr20:15275749-15275750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550080311	chr20:15275784-15275785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555256442	chr20:15275804-15275805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182787350	chr20:15275818-15275819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548167729	chr20:15275841-15275842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575024763	chr20:15275871-15275872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566300145	chr20:15275872-15275873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140558401	chr20:15275906-15275907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562979502	chr20:15275916-15275917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552268769	chr20:15275951-15275952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570682405	chr20:15275967-15275968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187453986	chr20:15275991-15275992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10485523	chr20:15276094-15276095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs574666027	chr20:15276172-15276173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367927742	chr20:15276242-15276243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58024796	chr20:15276272-15276273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375401468	chr20:15276273-15276274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397843278	chr20:15276274-15276275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547797914	chr20:15276275-15276276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535527313	chr20:15276317-15276318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115351141	chr20:15276358-15276359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373026897	chr20:15276502-15276503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6034147	chr20:15276517-15276518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144363738	chr20:15276520-15276521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564210402	chr20:15276576-15276577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576254303	chr20:15276580-15276581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147852937	chr20:15276624-15276625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562294725	chr20:15276629-15276630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529596533	chr20:15276630-15276631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541323905	chr20:15276631-15276632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560110244	chr20:15276674-15276675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190892810	chr20:15276780-15276781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183132469	chr20:15276810-15276811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6110566	chr20:15276852-15276853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370032468	chr20:15276912-15276913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542143309	chr20:15276962-15276963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373356287	chr20:15276975-15276976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570546842	chr20:15277002-15277003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141571452	chr20:15277014-15277015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140365910	chr20:15277056-15277057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549944863	chr20:15277063-15277064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15259400-15277600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:15276400-15276600	Enhancers	Gastric	stomach
3	chr20:15276400-15279600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:15277000-15277600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:15277200-15277600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:15277600-15277800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:15277600-15277800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr20:15277800-15282200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:15277800-15285000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:15281600-15282000	Enhancers	Lung	lung
11	chr20:15282600-15283000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr20:15284800-15285200	Enhancers	NHEK	skin
13	chr20:15285000-15285400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:15285000-15285800	Enhancers	HMEC	breast
15	chr20:15285800-15291000	Weak transcription	HMEC	breast
16	chr20:15289400-15290800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr20:15290600-15291600	Enhancers	HUVEC	blood vessel
18	chr20:15290600-15292600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr20:15290800-15291000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr20:15291000-15291400	Enhancers	HMEC	breast
21	chr20:15291000-15291600	Enhancers	Primary B cells from peripheral blood	blood
22	chr20:15291000-15291800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr20:15291200-15291600	Enhancers	Hela-S3	cervix
24	chr20:15291600-15297000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr20:15291800-15292400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr20:15293800-15294200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr20:15294800-15295200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr20:15295400-15297200	Enhancers	GM12878-XiMat	blood
29	chr20:15296000-15296200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr20:15296200-15297200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr20:15296200-15298400	Weak transcription	Primary B cells from cord blood	blood
32	chr20:15296600-15296800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr20:15296800-15297400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr20:15297000-15297400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr20:15297200-15298000	Flanking Active TSS	GM12878-XiMat	blood
36	chr20:15297200-15301000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr20:15297400-15298200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr20:15297400-15298600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr20:15298000-15298400	Active TSS	GM12878-XiMat	blood
40	chr20:15298200-15298400	Enhancers	Primary B cells from peripheral blood	blood
41	chr20:15298200-15298600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr20:15298400-15298600	Flanking Active TSS	GM12878-XiMat	blood
43	chr20:15298400-15298800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr20:15298400-15299800	Active TSS	Primary B cells from cord blood	blood
45	chr20:15298600-15298800	Active TSS	GM12878-XiMat	blood
46	chr20:15298600-15299000	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr20:15298800-15299200	Flanking Active TSS	GM12878-XiMat	blood
48	chr20:15298800-15302000	Enhancers	Primary B cells from peripheral blood	blood
49	chr20:15299000-15299800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr20:15299200-15299600	Active TSS	GM12878-XiMat	blood

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