Variant report

Variant	nsv833928
Chromosome Location	chr20:15619962-15780758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:15653294..15655712-chr20:15657720..15659720,2	MCF-7	breast:
2	chr20:15752035..15754742-chr9:125427247..125429430,2	MCF-7	breast:
3	chr20:15719119..15720725-chr20:15723805..15725405,2	MCF-7	breast:
4	chr20:15472191..15472832-chr20:15689360..15689915,3	MCF-7	breast:
5	chr20:15689395..15689920-chr20:15882980..15883748,3	MCF-7	breast:
6	chr20:15689619..15690201-chr20:15848550..15849185,2	MCF-7	breast:
7	chr20:15689386..15690379-chr20:15848236..15849270,12	MCF-7	breast:
8	chr20:15689146..15690267-chr20:15910611..15911196,3	MCF-7	breast:
9	chr20:15725311..15727779-chr20:15728429..15730816,2	K562	blood:
10	chr20:15653294..15655712-chr20:15657720..15659720,2	MCF-7	breast:
11	chr20:14122826..14123367-chr20:15689798..15690310,2	MCF-7	breast:
12	chr20:15719119..15720725-chr20:15723805..15725405,2	MCF-7	breast:
13	chr20:15725311..15727779-chr20:15728429..15730816,2	K562	blood:
14	chr20:15750671..15752397-chr20:15882354..15885004,2	MCF-7	breast:
15	chr20:15471920..15472855-chr20:15634516..15635330,3	MCF-7	breast:

No data

Extended variants
information (count: 5240 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:5240 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544581636	chr20:15619962-15619963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554011904	chr20:15619973-15619974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145201459	chr20:15619980-15619981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537048641	chr20:15619983-15619984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530546657	chr20:15620026-15620027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555299047	chr20:15620058-15620059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548981948	chr20:15620059-15620060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6043408	chr20:15620086-15620087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528233808	chr20:15620091-15620092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190002218	chr20:15620108-15620109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181256504	chr20:15620118-15620119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186295709	chr20:15620176-15620177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539168436	chr20:15620179-15620180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551109462	chr20:15620295-15620296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28531995	chr20:15620310-15620311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs458954	chr20:15620331-15620332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536653965	chr20:15620360-15620361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13037372	chr20:15620407-15620408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs137939541	chr20:15620415-15620416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114446042	chr20:15620422-15620423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558752497	chr20:15620430-15620431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142455385	chr20:15620445-15620446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541497249	chr20:15620447-15620448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544671795	chr20:15620523-15620524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563067442	chr20:15620524-15620525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369445105	chr20:15620569-15620570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28705670	chr20:15620608-15620609	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs28554130	chr20:15620618-15620619	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11470804	chr20:15620623-15620624	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575086085	chr20:15620627-15620628	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529964358	chr20:15620637-15620638	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544356113	chr20:15620660-15620661	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144488033	chr20:15620661-15620662	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115493498	chr20:15620665-15620666	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548046222	chr20:15620686-15620687	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572246836	chr20:15620693-15620694	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542617526	chr20:15620694-15620695	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571856860	chr20:15620695-15620696	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369688665	chr20:15620704-15620705	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189199535	chr20:15620710-15620711	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs113944718	chr20:15620719-15620720	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558036849	chr20:15620752-15620753	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546796925	chr20:15620768-15620769	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557809812	chr20:15620857-15620858	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532368062	chr20:15620931-15620932	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs551047894	chr20:15620937-15620938	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569342969	chr20:15620946-15620947	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141502167	chr20:15620967-15620968	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs77803656	chr20:15620969-15620970	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186533103	chr20:15620976-15620977	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15617000-15620400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:15617600-15629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:15618400-15620000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:15618400-15620400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:15618800-15622600	Weak transcription	Aorta	Aorta
6	chr20:15619000-15620200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:15619000-15622000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr20:15619000-15622400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr20:15619000-15622600	Weak transcription	Brain Substantia Nigra	brain
10	chr20:15619400-15622800	Weak transcription	Fetal Kidney	kidney
11	chr20:15619400-15629200	Weak transcription	Colon Smooth Muscle	Colon
12	chr20:15619400-15634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:15619600-15620600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr20:15620000-15621400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:15620400-15621400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:15620600-15620800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr20:15620800-15621000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr20:15621000-15621200	Enhancers	Brain Hippocampus Middle	brain
19	chr20:15621000-15623600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:15621200-15622000	Weak transcription	Brain Hippocampus Middle	brain
21	chr20:15621400-15621600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:15621400-15621600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:15621600-15622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:15622000-15622800	Enhancers	Brain Hippocampus Middle	brain
25	chr20:15622000-15623200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr20:15622400-15623200	Enhancers	Brain Cingulate Gyrus	brain
27	chr20:15622600-15622800	Enhancers	Brain Substantia Nigra	brain
28	chr20:15622600-15623000	Enhancers	Brain Angular Gyrus	brain
29	chr20:15622600-15624000	Enhancers	Aorta	Aorta
30	chr20:15622800-15623200	Weak transcription	Brain Substantia Nigra	brain
31	chr20:15622800-15623600	Enhancers	Fetal Kidney	kidney
32	chr20:15622800-15624200	Enhancers	HUVEC	blood vessel
33	chr20:15623000-15624000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr20:15623000-15624200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:15623200-15623600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:15623200-15623600	Enhancers	Brain Substantia Nigra	brain
37	chr20:15623200-15623800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:15623200-15624000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr20:15623400-15623600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:15623400-15623800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:15623400-15623800	Enhancers	NH-A	brain
42	chr20:15623400-15623800	Enhancers	NHLF	lung
43	chr20:15623400-15624000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr20:15623400-15624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:15623400-15624000	Enhancers	NHDF-Ad	bronchial
46	chr20:15623400-15624000	Enhancers	Osteobl	bone
47	chr20:15623600-15626400	Weak transcription	Fetal Kidney	kidney
48	chr20:15624200-15626200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:15626400-15626600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:15626400-15626600	Enhancers	Fetal Kidney	kidney

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