Variant report

Variant	nsv1061567
Chromosome Location	chr20:11379484-11405302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 959 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186565533	chr20:11379578-11379579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146290170	chr20:11379658-11379659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372116297	chr20:11379681-11379682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6040619	chr20:11379705-11379706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs555778388	chr20:11379734-11379735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575918623	chr20:11379744-11379745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560548274	chr20:11379787-11379788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191344972	chr20:11379829-11379830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1154723	chr20:11379842-11379843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577225787	chr20:11379874-11379875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6134238	chr20:11379898-11379899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139766206	chr20:11379910-11379911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111305173	chr20:11379924-11379925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552538001	chr20:11379976-11379977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6134239	chr20:11379995-11379996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6040620	chr20:11380062-11380063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143029565	chr20:11380134-11380135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73245680	chr20:11380147-11380148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183745309	chr20:11380167-11380168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562619514	chr20:11380171-11380172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6040621	chr20:11380259-11380260	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531606883	chr20:11380303-11380304	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551402850	chr20:11380309-11380310	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs6040622	chr20:11380312-11380313	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564434641	chr20:11380348-11380349	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6040623	chr20:11380379-11380380	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533370792	chr20:11380407-11380408	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547115692	chr20:11380431-11380432	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567013858	chr20:11380450-11380451	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535659333	chr20:11380455-11380456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543049486	chr20:11380476-11380477	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs2207120	chr20:11380497-11380498	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2207119	chr20:11380510-11380511	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79577372	chr20:11380514-11380515	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369078011	chr20:11380517-11380518	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs189238902	chr20:11380526-11380527	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533590290	chr20:11380562-11380563	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs202189458	chr20:11380578-11380579	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553429838	chr20:11380624-11380625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368214439	chr20:11380644-11380645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193299205	chr20:11380772-11380773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372042563	chr20:11380781-11380782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542372492	chr20:11380828-11380829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185128142	chr20:11380835-11380836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190270634	chr20:11380849-11380850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181087139	chr20:11380949-11380950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6040624	chr20:11380970-11380971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139864120	chr20:11380982-11380983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566208586	chr20:11381036-11381037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547042645	chr20:11381062-11381063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	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
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11376200-11380200	Weak transcription	NHEK	skin
2	chr20:11376200-11383800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr20:11376600-11383600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:11376800-11382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr20:11377000-11379600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:11379200-11379600	Enhancers	Osteobl	bone
7	chr20:11379400-11383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:11379600-11380000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:11379600-11383800	Weak transcription	Osteobl	bone
10	chr20:11380000-11394200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:11380200-11380400	Flanking Active TSS	NHEK	skin
12	chr20:11380200-11380600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr20:11380400-11380600	Active TSS	NHEK	skin
14	chr20:11380600-11382400	Weak transcription	NHEK	skin
15	chr20:11380600-11384600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:11381600-11382600	Enhancers	A549	lung
17	chr20:11382400-11382600	Enhancers	NHEK	skin
18	chr20:11382600-11382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:11382600-11382800	Active TSS	A549	lung
20	chr20:11382600-11382800	Enhancers	Dnd41	blood
21	chr20:11382600-11383000	Active TSS	Duodenum Mucosa	Duodenum
22	chr20:11382600-11383000	Active TSS	HepG2	liver
23	chr20:11382600-11383000	Active TSS	NHEK	skin
24	chr20:11382600-11383200	Active TSS	GM12878-XiMat	blood
25	chr20:11382800-11383000	Active TSS	Liver	Liver
26	chr20:11382800-11383000	Flanking Active TSS	A549	lung
27	chr20:11382800-11383200	Flanking Active TSS	Dnd41	blood
28	chr20:11383000-11383200	Flanking Active TSS	Liver	Liver
29	chr20:11383000-11383200	Enhancers	Ovary	ovary
30	chr20:11383000-11383200	Active TSS	A549	lung
31	chr20:11383000-11383200	Flanking Active TSS	NHEK	skin
32	chr20:11383200-11383400	Enhancers	Liver	Liver
33	chr20:11383200-11384600	Weak transcription	NHEK	skin
34	chr20:11383400-11384400	Weak transcription	Ovary	ovary
35	chr20:11383400-11385000	Enhancers	Colon Smooth Muscle	Colon
36	chr20:11383600-11385400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr20:11383800-11385000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr20:11383800-11385000	Enhancers	Osteobl	bone
39	chr20:11383800-11385200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr20:11383800-11385200	Enhancers	Rectal Smooth Muscle	rectum
41	chr20:11384400-11384800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr20:11384400-11385000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr20:11384400-11385000	Enhancers	Ovary	ovary
44	chr20:11384400-11385000	Enhancers	Psoas Muscle	Psoas
45	chr20:11384600-11384800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr20:11384600-11384800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr20:11384600-11385000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr20:11384600-11385000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr20:11384600-11385000	Enhancers	Right Atrium	heart
50	chr20:11384600-11385000	Enhancers	NHEK	skin

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