Variant report

Variant	nsv585577
Chromosome Location	chr20:15110426-15141004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 895 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528469913	chr20:15111603-15111604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185412220	chr20:15111613-15111614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73097524	chr20:15111616-15111617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553241713	chr20:15111618-15111619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533264375	chr20:15111751-15111752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571755574	chr20:15111771-15111772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550764187	chr20:15111785-15111786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188449027	chr20:15111787-15111788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192054717	chr20:15111789-15111790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567405327	chr20:15111792-15111793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148482125	chr20:15111810-15111811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142646765	chr20:15111831-15111832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184196527	chr20:15111872-15111873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188523583	chr20:15111877-15111878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367988268	chr20:15111913-15111914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573867682	chr20:15111933-15111934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564322079	chr20:15119032-15119033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576115992	chr20:15119041-15119042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6110528	chr20:15119097-15119098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561958606	chr20:15119098-15119099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529344502	chr20:15119103-15119104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6110529	chr20:15119114-15119115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6079676	chr20:15119125-15119126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533486517	chr20:15119148-15119149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191026905	chr20:15119176-15119177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570237978	chr20:15119213-15119214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549309897	chr20:15119224-15119225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567604885	chr20:15119226-15119227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151306253	chr20:15119245-15119246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553751853	chr20:15119321-15119322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183138092	chr20:15119358-15119359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201487551	chr20:15119359-15119360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541360637	chr20:15119450-15119451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539528172	chr20:15119460-15119461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187467140	chr20:15119503-15119504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193043102	chr20:15119505-15119506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576350626	chr20:15119520-15119521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140565998	chr20:15119537-15119538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555732141	chr20:15119617-15119618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573958454	chr20:15119648-15119649	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541301723	chr20:15119649-15119650	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559708597	chr20:15119700-15119701	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532222718	chr20:15119705-15119706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533131416	chr20:15119712-15119713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545532474	chr20:15119735-15119736	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34686852	chr20:15119772-15119773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs17292844	chr20:15119797-15119798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs183010047	chr20:15119815-15119816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562676833	chr20:15119847-15119848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377149197	chr20:15119865-15119866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15111600-15112000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:15119000-15119600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr20:15119000-15120200	Enhancers	Liver	Liver
4	chr20:15119200-15119800	Enhancers	Fetal Kidney	kidney
5	chr20:15119200-15120000	Enhancers	A549	lung
6	chr20:15119200-15120000	Enhancers	HepG2	liver
7	chr20:15119200-15120200	Enhancers	Stomach Mucosa	stomach
8	chr20:15119200-15120600	Enhancers	Fetal Intestine Large	intestine
9	chr20:15119400-15119600	Enhancers	Fetal Heart	heart
10	chr20:15119600-15120000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr20:15119600-15120200	Enhancers	Fetal Intestine Small	intestine
12	chr20:15119600-15125200	Weak transcription	Fetal Heart	heart
13	chr20:15119800-15120200	Enhancers	Brain Germinal Matrix	brain
14	chr20:15119800-15127400	Weak transcription	Fetal Kidney	kidney
15	chr20:15120000-15120600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr20:15120000-15120600	Enhancers	Gastric	stomach
17	chr20:15120200-15121200	Weak transcription	Stomach Mucosa	stomach
18	chr20:15120200-15121400	Weak transcription	Fetal Intestine Small	intestine
19	chr20:15120600-15122000	Weak transcription	Gastric	stomach
20	chr20:15120600-15122200	Weak transcription	Fetal Intestine Large	intestine
21	chr20:15121000-15121400	Enhancers	Primary hematopoietic stem cells	blood
22	chr20:15121200-15121600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr20:15121200-15121600	Enhancers	Stomach Mucosa	stomach
24	chr20:15121400-15121600	Enhancers	Fetal Intestine Small	intestine
25	chr20:15121400-15125200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr20:15121600-15122000	Weak transcription	Fetal Intestine Small	intestine
27	chr20:15121600-15124400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:15122000-15122200	Enhancers	Gastric	stomach
29	chr20:15122000-15123000	Enhancers	Fetal Intestine Small	intestine
30	chr20:15122200-15123000	Enhancers	Fetal Intestine Large	intestine
31	chr20:15124400-15126600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:15125000-15125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:15125200-15125800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr20:15125200-15126200	Enhancers	Fetal Heart	heart
35	chr20:15125200-15126400	Enhancers	Primary hematopoietic stem cells	blood
36	chr20:15125200-15126400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr20:15125400-15126000	Enhancers	Ovary	ovary
38	chr20:15126400-15127800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr20:15126600-15127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr20:15127400-15127800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr20:15127400-15127800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr20:15127400-15127800	Enhancers	Brain Germinal Matrix	brain
43	chr20:15127400-15128000	Enhancers	Fetal Kidney	kidney
44	chr20:15127400-15128200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr20:15127400-15128400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr20:15127600-15128200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr20:15127600-15128400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr20:15127600-15128400	Enhancers	Fetal Lung	lung
49	chr20:15127800-15128000	Enhancers	Primary hematopoietic stem cells	blood
50	chr20:15127800-15128200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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