Variant report

Variant	nsv519883
Chromosome Location	chr20:15738086-15817106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15750671..15752397-chr20:15882354..15885004,2	MCF-7	breast:
2	chr20:15752035..15754742-chr9:125427247..125429430,2	MCF-7	breast:
3	chr20:15784951..15787296-chr20:15795585..15797238,2	MCF-7	breast:
4	chr20:15784951..15787296-chr20:15795585..15797238,2	MCF-7	breast:

Extended variants
information (count: 2913 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2913 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1883733	chr20:15738086-15738087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187094191	chr20:15738115-15738116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111373531	chr20:15738171-15738172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539149988	chr20:15738218-15738219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556859933	chr20:15738220-15738221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557133202	chr20:15738230-15738231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6043520	chr20:15738249-15738250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs191576917	chr20:15738259-15738260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149257203	chr20:15738271-15738272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573489641	chr20:15738312-15738313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148437550	chr20:15738332-15738333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145144230	chr20:15738402-15738403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73246245	chr20:15738486-15738487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544708638	chr20:15738512-15738513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557281069	chr20:15738535-15738536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115619771	chr20:15738540-15738541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530622085	chr20:15738627-15738628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370392540	chr20:15738631-15738632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560918273	chr20:15738632-15738633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183763760	chr20:15738689-15738690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543044577	chr20:15738762-15738763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188095288	chr20:15738783-15738784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147158553	chr20:15738794-15738795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550747628	chr20:15738801-15738802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62194687	chr20:15738829-15738830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192545800	chr20:15738830-15738831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145546788	chr20:15738868-15738869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375814560	chr20:15738882-15738883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397865962	chr20:15738900-15738901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397793806	chr20:15738901-15738902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373144493	chr20:15738944-15738945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111576123	chr20:15738945-15738946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6135493	chr20:15738964-15738965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141087841	chr20:15739026-15739027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185419374	chr20:15739037-15739038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201572081	chr20:15739056-15739057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35691526	chr20:15739064-15739065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539957679	chr20:15739076-15739077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544522908	chr20:15739088-15739089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11337973	chr20:15739185-15739186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398035430	chr20:15739200-15739201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565025171	chr20:15739202-15739203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6135494	chr20:15739203-15739204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556703161	chr20:15739211-15739212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575272099	chr20:15739236-15739237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149781795	chr20:15739279-15739280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145717863	chr20:15739287-15739288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140481418	chr20:15739288-15739289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145696844	chr20:15739352-15739353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565225431	chr20:15739388-15739389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15736600-15738400	Enhancers	Primary B cells from peripheral blood	blood
2	chr20:15736800-15740800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:15737000-15740400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:15737200-15738200	Weak transcription	Brain Germinal Matrix	brain
5	chr20:15737400-15740000	Weak transcription	Brain Angular Gyrus	brain
6	chr20:15737400-15740200	Weak transcription	Brain Anterior Caudate	brain
7	chr20:15737400-15740400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:15737600-15740000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr20:15737600-15740200	Weak transcription	Brain Substantia Nigra	brain
10	chr20:15737800-15740000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr20:15737800-15740200	Weak transcription	Brain Hippocampus Middle	brain
12	chr20:15737800-15740200	Weak transcription	Fetal Brain Female	brain
13	chr20:15738200-15738600	Enhancers	Brain Germinal Matrix	brain
14	chr20:15738600-15740000	Weak transcription	Brain Germinal Matrix	brain
15	chr20:15739400-15739800	Enhancers	Fetal Muscle Leg	muscle
16	chr20:15739600-15741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:15739800-15740200	Weak transcription	Fetal Muscle Leg	muscle
18	chr20:15740000-15740200	Enhancers	Brain Cingulate Gyrus	brain
19	chr20:15740000-15740200	Enhancers	Stomach Smooth Muscle	stomach
20	chr20:15740000-15740400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:15740000-15740400	Enhancers	Colon Smooth Muscle	Colon
22	chr20:15740000-15740600	Enhancers	NHDF-Ad	bronchial
23	chr20:15740000-15741000	Enhancers	Fetal Stomach	stomach
24	chr20:15740000-15741400	Enhancers	Brain Angular Gyrus	brain
25	chr20:15740000-15741400	Enhancers	Brain Germinal Matrix	brain
26	chr20:15740000-15741400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr20:15740000-15741600	Enhancers	Fetal Kidney	kidney
28	chr20:15740200-15740400	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr20:15740200-15740400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr20:15740200-15740400	Enhancers	Brain Substantia Nigra	brain
31	chr20:15740200-15740400	Enhancers	Fetal Brain Female	brain
32	chr20:15740200-15740600	Enhancers	Rectal Smooth Muscle	rectum
33	chr20:15740200-15740800	Active TSS	Stomach Smooth Muscle	stomach
34	chr20:15740200-15741000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:15740200-15741000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:15740200-15741000	Enhancers	Brain Anterior Caudate	brain
37	chr20:15740200-15741200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr20:15740200-15741200	Enhancers	Ovary	ovary
39	chr20:15740200-15741600	Enhancers	Fetal Muscle Leg	muscle
40	chr20:15740200-15741800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr20:15740200-15743200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr20:15740400-15740600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr20:15740400-15740800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr20:15740400-15740800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:15740400-15740800	Active TSS	Brain Cingulate Gyrus	brain
46	chr20:15740400-15740800	Active TSS	Brain Hippocampus Middle	brain
47	chr20:15740400-15740800	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr20:15740400-15740800	Active TSS	Fetal Muscle Trunk	muscle
49	chr20:15740400-15741000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:15740400-15741000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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