Variant report

Variant	nsv585573
Chromosome Location	chr20:15058029-15147150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2381 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs381053	chr20:15058029-15058030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563558924	chr20:15058039-15058040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545225493	chr20:15058087-15058088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16995290	chr20:15058088-15058089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77780612	chr20:15058093-15058094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184722798	chr20:15058132-15058133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563780088	chr20:15058133-15058134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372693250	chr20:15058180-15058181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528464843	chr20:15058185-15058186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189173882	chr20:15058244-15058245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs8116833	chr20:15058256-15058257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531232084	chr20:15058346-15058347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532628678	chr20:15058371-15058372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552813163	chr20:15058426-15058427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551202659	chr20:15058447-15058448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528207515	chr20:15058500-15058501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11907562	chr20:15058514-15058515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541925247	chr20:15058515-15058516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567304218	chr20:15058521-15058522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377551017	chr20:15058544-15058545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566945864	chr20:15058550-15058551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534286389	chr20:15058598-15058599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372345740	chr20:15058617-15058618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117435781	chr20:15058620-15058621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140415515	chr20:15058635-15058636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145512982	chr20:15058646-15058647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559399274	chr20:15058764-15058765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528126915	chr20:15058766-15058767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551452441	chr20:15058777-15058778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557125478	chr20:15058781-15058782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs411944	chr20:15058882-15058883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561602311	chr20:15058907-15058908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554868300	chr20:15058922-15058923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181679836	chr20:15058942-15058943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540657584	chr20:15058945-15058946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375716016	chr20:15058953-15058954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111892906	chr20:15059005-15059006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186964619	chr20:15059068-15059069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532680123	chr20:15059116-15059117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544339311	chr20:15059166-15059167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113690295	chr20:15059195-15059196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140319530	chr20:15059204-15059205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539218369	chr20:15059248-15059249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181247485	chr20:15059256-15059257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558036852	chr20:15059293-15059294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13041318	chr20:15059317-15059318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13041323	chr20:15059322-15059323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75084657	chr20:15059351-15059352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11407171	chr20:15059354-15059355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397748759	chr20:15059367-15059368	Weak transcription Enhancers	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
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15050600-15058200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr20:15057200-15059200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr20:15058000-15058600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:15058000-15059200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:15058200-15059000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:15058200-15059000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr20:15058200-15059200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr20:15058200-15059400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:15058400-15058600	Enhancers	Brain Germinal Matrix	brain
10	chr20:15058400-15059200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr20:15058400-15059200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:15058600-15059000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr20:15059000-15061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:15059800-15060800	Enhancers	Dnd41	blood
15	chr20:15062400-15063200	Enhancers	Fetal Brain Male	brain
16	chr20:15062600-15062800	Enhancers	Fetal Lung	lung
17	chr20:15063400-15064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:15063400-15064000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:15063600-15064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:15066800-15070200	Weak transcription	Ovary	ovary
21	chr20:15069400-15070400	Enhancers	Brain Germinal Matrix	brain
22	chr20:15070200-15070600	Enhancers	Ovary	ovary
23	chr20:15070200-15070800	Enhancers	Dnd41	blood
24	chr20:15070600-15071600	Weak transcription	Ovary	ovary
25	chr20:15070600-15081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:15070800-15071200	Weak transcription	Dnd41	blood
27	chr20:15071200-15072200	Enhancers	Dnd41	blood
28	chr20:15071400-15072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:15071600-15071800	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr20:15071800-15072000	Enhancers	Ovary	ovary
31	chr20:15071800-15072200	Enhancers	Primary T cells from cord blood	blood
32	chr20:15071800-15072400	Enhancers	Stomach Mucosa	stomach
33	chr20:15072200-15072800	Flanking Active TSS	Dnd41	blood
34	chr20:15072800-15073600	Enhancers	Dnd41	blood
35	chr20:15074400-15074600	Enhancers	Stomach Mucosa	stomach
36	chr20:15078200-15078800	Enhancers	HepG2	liver
37	chr20:15081000-15081600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:15081200-15082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:15081200-15082000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:15081200-15082000	Enhancers	HMEC	breast
41	chr20:15081200-15082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr20:15081200-15082200	Enhancers	NHEK	skin
43	chr20:15087200-15087400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:15087400-15092200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:15088400-15089200	Enhancers	Stomach Mucosa	stomach
46	chr20:15089000-15089600	Enhancers	Fetal Intestine Small	intestine
47	chr20:15090800-15091000	Enhancers	Thymus	Thymus
48	chr20:15091000-15092200	Weak transcription	Thymus	Thymus
49	chr20:15091000-15093400	Enhancers	Fetal Thymus	thymus
50	chr20:15091200-15094000	Enhancers	Dnd41	blood

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