Variant report

Variant	nsv1064739
Chromosome Location	chr20:15052434-15154575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:

Extended variants
information (count: 2878 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2878 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535562338	chr20:15052492-15052493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1407327	chr20:15052514-15052515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530121648	chr20:15052551-15052552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386812741	chr20:15052594-15052595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76376380	chr20:15052595-15052596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149997111	chr20:15052626-15052627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs414413	chr20:15052676-15052677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570916596	chr20:15052678-15052679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538210388	chr20:15052680-15052681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556521921	chr20:15052698-15052699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545830590	chr20:15052760-15052761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77861234	chr20:15052838-15052839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180885390	chr20:15052850-15052851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554789421	chr20:15052861-15052862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116384855	chr20:15052916-15052917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540535649	chr20:15052918-15052919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34619211	chr20:15052919-15052920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560615448	chr20:15053005-15053006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577326827	chr20:15053041-15053042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544652665	chr20:15053065-15053066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4814335	chr20:15053067-15053068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs530263528	chr20:15053095-15053096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548386370	chr20:15053110-15053111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560748756	chr20:15053119-15053120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73093985	chr20:15053131-15053132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11908678	chr20:15053183-15053184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184430222	chr20:15053220-15053221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371405937	chr20:15053227-15053228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11908689	chr20:15053280-15053281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145012445	chr20:15053298-15053299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75432676	chr20:15053310-15053311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536355705	chr20:15053339-15053340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149076564	chr20:15053383-15053384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190566985	chr20:15053393-15053394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181809076	chr20:15053491-15053492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533941019	chr20:15053535-15053536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs437139	chr20:15053557-15053558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531652328	chr20:15053581-15053582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577081158	chr20:15053597-15053598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186125794	chr20:15053616-15053617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144761277	chr20:15053634-15053635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146764903	chr20:15053682-15053683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574704522	chr20:15053709-15053710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542314409	chr20:15053729-15053730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560358318	chr20:15053730-15053731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527762701	chr20:15053738-15053739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190586941	chr20:15053739-15053740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564334076	chr20:15053764-15053765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181378129	chr20:15053771-15053772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6043083	chr20:15053801-15053802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15046200-15055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:15050600-15058200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr20:15056000-15056600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:15056600-15058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:15057200-15059200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:15057400-15057600	Enhancers	Brain Germinal Matrix	brain
7	chr20:15058000-15058600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:15058000-15059200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr20:15058200-15059000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr20:15058200-15059000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:15058200-15059200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr20:15058200-15059400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr20:15058400-15058600	Enhancers	Brain Germinal Matrix	brain
14	chr20:15058400-15059200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr20:15058400-15059200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:15058600-15059000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:15059000-15061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:15059800-15060800	Enhancers	Dnd41	blood
19	chr20:15062400-15063200	Enhancers	Fetal Brain Male	brain
20	chr20:15062600-15062800	Enhancers	Fetal Lung	lung
21	chr20:15063400-15064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:15063400-15064000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr20:15063600-15064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:15066800-15070200	Weak transcription	Ovary	ovary
25	chr20:15069400-15070400	Enhancers	Brain Germinal Matrix	brain
26	chr20:15070200-15070600	Enhancers	Ovary	ovary
27	chr20:15070200-15070800	Enhancers	Dnd41	blood
28	chr20:15070600-15071600	Weak transcription	Ovary	ovary
29	chr20:15070600-15081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:15070800-15071200	Weak transcription	Dnd41	blood
31	chr20:15071200-15072200	Enhancers	Dnd41	blood
32	chr20:15071400-15072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:15071600-15071800	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr20:15071800-15072000	Enhancers	Ovary	ovary
35	chr20:15071800-15072200	Enhancers	Primary T cells from cord blood	blood
36	chr20:15071800-15072400	Enhancers	Stomach Mucosa	stomach
37	chr20:15072200-15072800	Flanking Active TSS	Dnd41	blood
38	chr20:15072800-15073600	Enhancers	Dnd41	blood
39	chr20:15074400-15074600	Enhancers	Stomach Mucosa	stomach
40	chr20:15078200-15078800	Enhancers	HepG2	liver
41	chr20:15081000-15081600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr20:15081200-15082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr20:15081200-15082000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:15081200-15082000	Enhancers	HMEC	breast
45	chr20:15081200-15082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:15081200-15082200	Enhancers	NHEK	skin
47	chr20:15087200-15087400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:15087400-15092200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:15088400-15089200	Enhancers	Stomach Mucosa	stomach
50	chr20:15089000-15089600	Enhancers	Fetal Intestine Small	intestine

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