Variant report

Variant	nsv585582
Chromosome Location	chr20:15234479-15252715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 304 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6034134	chr20:15234479-15234480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529648738	chr20:15234515-15234516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547734430	chr20:15234520-15234521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369801343	chr20:15234539-15234540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566249060	chr20:15234601-15234602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527349288	chr20:15234639-15234640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571060262	chr20:15234659-15234660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78993334	chr20:15234670-15234671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570532016	chr20:15234732-15234733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139720643	chr20:15234739-15234740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10485520	chr20:15234769-15234770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189334129	chr20:15234776-15234777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565616325	chr20:15234807-15234808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111643871	chr20:15234824-15234825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535873944	chr20:15234852-15234853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554174792	chr20:15234865-15234866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113532919	chr20:15234902-15234903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180882817	chr20:15234962-15234963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140590835	chr20:15234986-15234987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4580449	chr20:15235072-15235073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559531178	chr20:15235080-15235081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4399780	chr20:15235142-15235143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4371414	chr20:15235247-15235248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543953290	chr20:15235256-15235257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6079719	chr20:15235277-15235278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562245503	chr20:15235295-15235296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529513461	chr20:15235297-15235298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146936985	chr20:15235299-15235300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6074863	chr20:15235300-15235301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564149841	chr20:15235316-15235317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77996820	chr20:15235322-15235323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572765708	chr20:15235352-15235353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111767648	chr20:15235417-15235418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4473454	chr20:15235424-15235425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189408271	chr20:15235492-15235493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73614403	chr20:15235503-15235504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549920480	chr20:15235555-15235556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568379523	chr20:15235600-15235601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75017119	chr20:15235601-15235602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74179767	chr20:15235608-15235609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73101205	chr20:15235663-15235664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141512331	chr20:15235698-15235699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369060583	chr20:15235732-15235733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181822560	chr20:15235773-15235774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547842167	chr20:15235796-15235797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544026454	chr20:15235805-15235806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73262749	chr20:15235839-15235840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186184264	chr20:15235850-15235851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529595431	chr20:15235855-15235856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555362064	chr20:15235881-15235882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15234000-15236000	Weak transcription	Gastric	stomach
2	chr20:15236000-15236200	Enhancers	Gastric	stomach
3	chr20:15237200-15238400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:15237600-15238400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:15237800-15238200	Enhancers	HMEC	breast
6	chr20:15244200-15245200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:15245200-15246000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:15245200-15246600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:15245400-15246200	Enhancers	Fetal Intestine Large	intestine
10	chr20:15245400-15246200	Enhancers	Fetal Intestine Small	intestine
11	chr20:15245800-15246600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:15245800-15246800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:15246200-15247000	Weak transcription	Fetal Intestine Large	intestine
14	chr20:15246400-15249600	Enhancers	GM12878-XiMat	blood
15	chr20:15247000-15247200	Enhancers	Fetal Intestine Large	intestine
16	chr20:15248600-15250000	Enhancers	Primary B cells from peripheral blood	blood
17	chr20:15249600-15250000	Flanking Active TSS	GM12878-XiMat	blood
18	chr20:15250000-15250200	Enhancers	GM12878-XiMat	blood

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