Variant report

Variant	nsv585630
Chromosome Location	chr20:15335574-15360816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15354524..15357487-chr20:15359360..15362240,2	MCF-7	breast:
2	chr20:15354524..15357487-chr20:15359360..15362240,2	MCF-7	breast:
3	chr20:15349649..15350459-chr6:35465170..35465747,2	MCF-7	breast:

Extended variants
information (count: 821 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2423947	chr20:15335574-15335575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs66927103	chr20:15335585-15335586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6110576	chr20:15335586-15335587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372678998	chr20:15335587-15335588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2423948	chr20:15335628-15335629	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535030114	chr20:15335705-15335706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142551003	chr20:15335713-15335714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151309533	chr20:15335723-15335724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189326675	chr20:15335742-15335743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528221874	chr20:15335748-15335749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6110577	chr20:15335754-15335755	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
12	rs575952749	chr20:15335764-15335765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539135719	chr20:15335791-15335792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555389546	chr20:15335821-15335822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118136690	chr20:15335823-15335824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541371128	chr20:15335824-15335825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559565347	chr20:15335825-15335826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533183569	chr20:15335861-15335862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182245962	chr20:15335910-15335911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111329998	chr20:15335911-15335912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563637460	chr20:15335921-15335922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530885173	chr20:15335922-15335923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549102396	chr20:15335986-15335987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567359485	chr20:15335994-15335995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528739879	chr20:15336104-15336105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6079779	chr20:15336115-15336116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568332648	chr20:15336155-15336156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575526236	chr20:15336164-15336165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2423949	chr20:15336166-15336167	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184817792	chr20:15336174-15336175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569546688	chr20:15336175-15336176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117343773	chr20:15336190-15336191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112992798	chr20:15336207-15336208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140546625	chr20:15336223-15336224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368341052	chr20:15336246-15336247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147126457	chr20:15336274-15336275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537220932	chr20:15336303-15336304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80134187	chr20:15336308-15336309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77519755	chr20:15336354-15336355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74597659	chr20:15336355-15336356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541303890	chr20:15336364-15336365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2423950	chr20:15336368-15336369	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375685393	chr20:15336372-15336373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577869685	chr20:15336493-15336494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375131513	chr20:15336507-15336508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539807911	chr20:15336522-15336523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76913684	chr20:15336524-15336525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2423951	chr20:15336538-15336539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561156972	chr20:15336548-15336549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543136918	chr20:15336564-15336565	Enhancers 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
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15327600-15346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:15335600-15337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:15339400-15339800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:15339400-15339800	Enhancers	A549	lung
5	chr20:15339400-15339800	Enhancers	HMEC	breast
6	chr20:15339600-15340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:15343600-15343800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:15343600-15344000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr20:15343600-15344000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr20:15343600-15344000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:15343600-15344200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr20:15343600-15344200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:15343600-15344200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr20:15343600-15345000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr20:15343800-15344200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr20:15343800-15344200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr20:15344400-15344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr20:15349400-15349800	Enhancers	Duodenum Mucosa	Duodenum
19	chr20:15349800-15350600	Enhancers	Fetal Heart	heart
20	chr20:15349800-15351200	Enhancers	Brain Germinal Matrix	brain
21	chr20:15350000-15350600	Active TSS	Stomach Smooth Muscle	stomach
22	chr20:15350000-15350800	Enhancers	Colon Smooth Muscle	Colon
23	chr20:15350200-15350400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:15350200-15350800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr20:15350600-15352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:15350800-15352000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:15351600-15352400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:15352000-15352400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr20:15352000-15352400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:15352000-15353000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:15354000-15376400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:15360000-15360400	Enhancers	Fetal Intestine Large	intestine
33	chr20:15360000-15360400	Enhancers	Fetal Intestine Small	intestine

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