Variant report

Variant	nsv3303
Chromosome Location	chr20:15656109-15700969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15689619..15690201-chr20:15848550..15849185,2	MCF-7	breast:
2	chr20:15653294..15655712-chr20:15657720..15659720,2	MCF-7	breast:
3	chr20:15472191..15472832-chr20:15689360..15689915,3	MCF-7	breast:
4	chr20:15689146..15690267-chr20:15910611..15911196,3	MCF-7	breast:
5	chr20:15689395..15689920-chr20:15882980..15883748,3	MCF-7	breast:
6	chr20:14122826..14123367-chr20:15689798..15690310,2	MCF-7	breast:
7	chr20:15689386..15690379-chr20:15848236..15849270,12	MCF-7	breast:

Extended variants
information (count: 1511 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1511 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184533348	chr20:15656120-15656121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553689931	chr20:15656121-15656122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7362631	chr20:15656143-15656144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188969058	chr20:15656146-15656147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371134638	chr20:15656156-15656157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200049844	chr20:15656168-15656169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16996363	chr20:15656192-15656193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6043427	chr20:15656200-15656201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147999123	chr20:15656248-15656249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6110727	chr20:15656320-15656321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375873115	chr20:15656337-15656338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572790475	chr20:15656346-15656347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539808036	chr20:15656348-15656349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6110728	chr20:15656358-15656359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140556818	chr20:15656395-15656396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577035663	chr20:15656420-15656421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544117100	chr20:15656442-15656443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554860358	chr20:15656517-15656518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562328698	chr20:15656524-15656525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73242444	chr20:15656581-15656582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76681109	chr20:15656586-15656587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369992827	chr20:15656605-15656606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533775398	chr20:15656649-15656650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547964430	chr20:15656672-15656673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553524703	chr20:15656763-15656764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552259196	chr20:15656782-15656783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75840831	chr20:15656887-15656888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112763392	chr20:15656893-15656894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74886385	chr20:15656924-15656925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538521421	chr20:15656950-15656951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367712736	chr20:15657022-15657023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189758824	chr20:15657069-15657070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568670802	chr20:15657081-15657082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372246517	chr20:15657092-15657093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554356197	chr20:15657103-15657104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572806779	chr20:15657107-15657108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138354344	chr20:15657130-15657131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180994247	chr20:15657131-15657132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185265953	chr20:15657181-15657182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201215	chr20:15657202-15657203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544079984	chr20:15657232-15657233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556078814	chr20:15657242-15657243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76527828	chr20:15657268-15657269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76509632	chr20:15657269-15657270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139233464	chr20:15657397-15657398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574400427	chr20:15657415-15657416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77832511	chr20:15657440-15657441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560316384	chr20:15657441-15657442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527747931	chr20:15657489-15657490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571114936	chr20:15657497-15657498	Weak transcription Enhancers	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:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15652400-15657000	Enhancers	Osteobl	bone
2	chr20:15652600-15657400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:15652600-15657400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:15652600-15657400	Enhancers	NHDF-Ad	bronchial
5	chr20:15652600-15657800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:15653000-15656600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:15653200-15657400	Enhancers	HSMM	muscle
8	chr20:15653400-15657000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:15653400-15660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:15654400-15657000	Enhancers	NHLF	lung
11	chr20:15655000-15657400	Enhancers	Colon Smooth Muscle	Colon
12	chr20:15655000-15657800	Enhancers	Fetal Kidney	kidney
13	chr20:15655200-15657800	Enhancers	Fetal Lung	lung
14	chr20:15655600-15656600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:15656600-15657400	Enhancers	Brain Germinal Matrix	brain
16	chr20:15657000-15663200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:15657200-15658200	Enhancers	Liver	Liver
18	chr20:15657400-15662200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr20:15657400-15662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:15657800-15663000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:15658000-15658400	Enhancers	Pancreas	Pancrea
22	chr20:15660200-15660400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:15660600-15661200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:15661200-15664800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:15662200-15664000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr20:15662800-15664000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:15662800-15664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:15662800-15664000	Enhancers	Osteobl	bone
29	chr20:15663000-15663800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:15663000-15664000	Enhancers	HUVEC	blood vessel
31	chr20:15663000-15664000	Enhancers	NHDF-Ad	bronchial
32	chr20:15663200-15663600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:15663200-15664000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:15663200-15664000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr20:15663200-15664000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:15664800-15665000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:15670600-15670800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:15673200-15673800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:15673800-15680200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:15679600-15679800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr20:15679600-15680000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr20:15679800-15680000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr20:15679800-15680000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr20:15679800-15680000	Enhancers	HMEC	breast
45	chr20:15679800-15680000	Enhancers	NHEK	skin
46	chr20:15679800-15680400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:15680000-15680400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr20:15680000-15680400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:15680000-15681800	Flanking Active TSS	HMEC	breast
50	chr20:15680000-15681800	Flanking Active TSS	NHEK	skin

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