Variant report

Variant	nsv1067451
Chromosome Location	chr20:15078343-15135938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1295 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6110516	chr20:15078343-15078344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540412872	chr20:15078418-15078419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565280401	chr20:15078493-15078494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183137851	chr20:15078514-15078515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188319874	chr20:15078588-15078589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78972926	chr20:15078593-15078594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193045187	chr20:15078614-15078615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148424449	chr20:15078704-15078705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377256	chr20:15078724-15078725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs528320784	chr20:15078725-15078726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143839452	chr20:15078758-15078759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576085341	chr20:15078776-15078777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572820610	chr20:15078777-15078778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571614959	chr20:15078832-15078833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538887280	chr20:15078845-15078846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs393205	chr20:15078869-15078870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146834090	chr20:15078886-15078887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536231660	chr20:15078900-15078901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183102772	chr20:15078929-15078930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78548394	chr20:15078978-15078979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115152200	chr20:15079003-15079004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541415732	chr20:15079005-15079006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577131806	chr20:15079018-15079019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544471429	chr20:15079152-15079153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374299323	chr20:15079189-15079190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563157603	chr20:15079233-15079234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140724185	chr20:15079252-15079253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191328671	chr20:15079253-15079254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561076588	chr20:15079286-15079287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528170011	chr20:15079290-15079291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183584849	chr20:15079292-15079293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546819671	chr20:15079320-15079321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571426010	chr20:15079327-15079328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553235628	chr20:15079337-15079338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565915102	chr20:15079351-15079352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532472039	chr20:15079439-15079440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540901161	chr20:15079491-15079492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569042204	chr20:15079497-15079498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564385613	chr20:15079544-15079545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144473162	chr20:15079545-15079546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548290936	chr20:15079596-15079597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151042869	chr20:15079631-15079632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533990056	chr20:15079633-15079634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558744152	chr20:15079635-15079636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576992745	chr20:15079675-15079676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538025337	chr20:15079772-15079773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556848176	chr20:15079810-15079811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533289073	chr20:15079816-15079817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189498156	chr20:15079864-15079865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111757713	chr20:15079903-15079904	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
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15070600-15081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:15078200-15078800	Enhancers	HepG2	liver
3	chr20:15081000-15081600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:15081200-15082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:15081200-15082000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:15081200-15082000	Enhancers	HMEC	breast
7	chr20:15081200-15082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr20:15081200-15082200	Enhancers	NHEK	skin
9	chr20:15087200-15087400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:15087400-15092200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:15088400-15089200	Enhancers	Stomach Mucosa	stomach
12	chr20:15089000-15089600	Enhancers	Fetal Intestine Small	intestine
13	chr20:15090800-15091000	Enhancers	Thymus	Thymus
14	chr20:15091000-15092200	Weak transcription	Thymus	Thymus
15	chr20:15091000-15093400	Enhancers	Fetal Thymus	thymus
16	chr20:15091200-15094000	Enhancers	Dnd41	blood
17	chr20:15092200-15092600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:15092200-15093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:15092200-15093000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr20:15092200-15093600	Enhancers	Thymus	Thymus
21	chr20:15092200-15094000	Enhancers	Primary T cells from cord blood	blood
22	chr20:15092400-15092800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:15092400-15092800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:15093000-15094800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:15093400-15095000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:15093400-15096000	Weak transcription	Fetal Thymus	thymus
27	chr20:15093600-15094200	Weak transcription	Thymus	Thymus
28	chr20:15093600-15095200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:15093800-15094200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:15093800-15094600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:15093800-15095000	Enhancers	Brain Hippocampus Middle	brain
32	chr20:15093800-15095200	Enhancers	Brain Substantia Nigra	brain
33	chr20:15094000-15094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr20:15094000-15094600	Enhancers	Fetal Brain Male	brain
35	chr20:15094000-15094800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr20:15094000-15094800	Enhancers	Brain Angular Gyrus	brain
37	chr20:15094000-15095400	Weak transcription	Dnd41	blood
38	chr20:15094000-15096400	Weak transcription	Primary T cells from cord blood	blood
39	chr20:15094200-15094400	Enhancers	Thymus	Thymus
40	chr20:15094400-15095800	Weak transcription	Thymus	Thymus
41	chr20:15094600-15094800	Enhancers	Aorta	Aorta
42	chr20:15094800-15095000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:15095400-15097200	Enhancers	Dnd41	blood
44	chr20:15095800-15097000	Enhancers	Thymus	Thymus
45	chr20:15096000-15096200	Enhancers	Fetal Thymus	thymus
46	chr20:15096200-15096600	Weak transcription	Fetal Thymus	thymus
47	chr20:15096400-15096600	Enhancers	Primary T cells from cord blood	blood
48	chr20:15096600-15097200	Enhancers	Fetal Thymus	thymus
49	chr20:15102800-15104400	Enhancers	Dnd41	blood
50	chr20:15103000-15103800	Enhancers	Stomach Mucosa	stomach

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