Variant report

Variant	esv1830261
Chromosome Location	chr20:15291552-15304048
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	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:

Extended variants
information (count: 430 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6131660	chr20:15291552-15291553	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549634638	chr20:15291569-15291570	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144734203	chr20:15291586-15291587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186171555	chr20:15291601-15291602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547525203	chr20:15291607-15291608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117369682	chr20:15291638-15291639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566036889	chr20:15291677-15291678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111542473	chr20:15291696-15291697	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558077407	chr20:15291742-15291743	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs570203570	chr20:15291796-15291797	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190491162	chr20:15291805-15291806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369655298	chr20:15291808-15291809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574526132	chr20:15291841-15291842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181381426	chr20:15291868-15291869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369694916	chr20:15291884-15291885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553684172	chr20:15291904-15291905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148102444	chr20:15291997-15291998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141742889	chr20:15292047-15292048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113358835	chr20:15292085-15292086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566942969	chr20:15292100-15292101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531377697	chr20:15292112-15292113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112385257	chr20:15292131-15292132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543344388	chr20:15292144-15292145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561637792	chr20:15292149-15292150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529293471	chr20:15292163-15292164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139556024	chr20:15292177-15292178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566023584	chr20:15292194-15292195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561102883	chr20:15292214-15292215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533281899	chr20:15292215-15292216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551831763	chr20:15292221-15292222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112106880	chr20:15292222-15292223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146269296	chr20:15292239-15292240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529984254	chr20:15292241-15292242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113838908	chr20:15292254-15292255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567965198	chr20:15292288-15292289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6079741	chr20:15292300-15292301	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143957584	chr20:15292315-15292316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532122089	chr20:15292348-15292349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186257924	chr20:15292353-15292354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144953554	chr20:15292368-15292369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149050815	chr20:15292371-15292372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191198898	chr20:15292379-15292380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182618572	chr20:15292380-15292381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111236789	chr20:15292414-15292415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4814355	chr20:15292476-15292477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561498364	chr20:15292514-15292515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529159962	chr20:15292522-15292523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371076992	chr20:15292525-15292526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6079742	chr20:15292533-15292534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190981161	chr20:15292556-15292557	Enhancers Weak transcription	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
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15290600-15291600	Enhancers	HUVEC	blood vessel
2	chr20:15290600-15292600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:15291000-15291600	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:15291000-15291800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr20:15291200-15291600	Enhancers	Hela-S3	cervix
6	chr20:15291600-15297000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr20:15291800-15292400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr20:15293800-15294200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr20:15294800-15295200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr20:15295400-15297200	Enhancers	GM12878-XiMat	blood
11	chr20:15296000-15296200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr20:15296200-15297200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr20:15296200-15298400	Weak transcription	Primary B cells from cord blood	blood
14	chr20:15296600-15296800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr20:15296800-15297400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr20:15297000-15297400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr20:15297200-15298000	Flanking Active TSS	GM12878-XiMat	blood
18	chr20:15297200-15301000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr20:15297400-15298200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr20:15297400-15298600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr20:15298000-15298400	Active TSS	GM12878-XiMat	blood
22	chr20:15298200-15298400	Enhancers	Primary B cells from peripheral blood	blood
23	chr20:15298200-15298600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr20:15298400-15298600	Flanking Active TSS	GM12878-XiMat	blood
25	chr20:15298400-15298800	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr20:15298400-15299800	Active TSS	Primary B cells from cord blood	blood
27	chr20:15298600-15298800	Active TSS	GM12878-XiMat	blood
28	chr20:15298600-15299000	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr20:15298800-15299200	Flanking Active TSS	GM12878-XiMat	blood
30	chr20:15298800-15302000	Enhancers	Primary B cells from peripheral blood	blood
31	chr20:15299000-15299800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr20:15299200-15299600	Active TSS	GM12878-XiMat	blood
33	chr20:15299600-15300400	Flanking Active TSS	GM12878-XiMat	blood
34	chr20:15299800-15300000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr20:15300000-15300400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr20:15300400-15302000	Enhancers	GM12878-XiMat	blood
37	chr20:15300600-15302000	Enhancers	Psoas Muscle	Psoas
38	chr20:15300800-15301600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr20:15300800-15302400	Enhancers	HMEC	breast
40	chr20:15301000-15302000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr20:15301000-15302400	Enhancers	Fetal Heart	heart
42	chr20:15301200-15302200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr20:15301400-15302000	Enhancers	Adipose Nuclei	Adipose
44	chr20:15301400-15302200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr20:15301400-15302400	Enhancers	NHEK	skin
46	chr20:15301600-15302600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:15301800-15302200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr20:15302000-15303600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:15302200-15303200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:15302200-15303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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