Variant report

Variant	esv2757712
Chromosome Location	chr20:15282448-15331007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:
2	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:
3	chr20:15280200..15282422-chr20:15286811..15288380,2	MCF-7	breast:
4	chr20:14335576..14337791-chr20:15315333..15317078,2	MCF-7	breast:
5	chr20:15279663..15281630-chr20:15285386..15287786,2	MCF-7	breast:

Extended variants
information (count: 1688 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1688 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6043194	chr20:15282448-15282449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77699041	chr20:15282463-15282464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541919820	chr20:15282472-15282473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151009015	chr20:15282473-15282474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527849759	chr20:15282488-15282489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552478810	chr20:15282509-15282510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564423515	chr20:15282598-15282599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559021868	chr20:15282674-15282675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571092125	chr20:15282675-15282676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79439843	chr20:15282696-15282697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140711925	chr20:15282697-15282698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4814354	chr20:15282802-15282803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78621834	chr20:15282812-15282813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551207534	chr20:15282877-15282878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181426414	chr20:15282893-15282894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566703529	chr20:15282904-15282905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540749514	chr20:15283008-15283009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112425707	chr20:15283011-15283012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200849399	chr20:15283023-15283024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs63419061	chr20:15283027-15283028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56271877	chr20:15283029-15283030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377570672	chr20:15283033-15283034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6147301	chr20:15283036-15283037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371889699	chr20:15283037-15283038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570722105	chr20:15283066-15283067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185389779	chr20:15283076-15283077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189906136	chr20:15283082-15283083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75661497	chr20:15283091-15283092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62205200	chr20:15283101-15283102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574709726	chr20:15283104-15283105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541940894	chr20:15283146-15283147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553826759	chr20:15283158-15283159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180817182	chr20:15283184-15283185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73614405	chr20:15283228-15283229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115740833	chr20:15283239-15283240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532033093	chr20:15283370-15283371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541961677	chr20:15283375-15283376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6034150	chr20:15283418-15283419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184928046	chr20:15283487-15283488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572733806	chr20:15283518-15283519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529638061	chr20:15283540-15283541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78768150	chr20:15283545-15283546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540387434	chr20:15283558-15283559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73265015	chr20:15283581-15283582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140272121	chr20:15283606-15283607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373815327	chr20:15283654-15283655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367623027	chr20:15283694-15283695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570514373	chr20:15283696-15283697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538159186	chr20:15283737-15283738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6135380	chr20:15283759-15283760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15277800-15285000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:15282600-15283000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr20:15284800-15285200	Enhancers	NHEK	skin
4	chr20:15285000-15285400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:15285000-15285800	Enhancers	HMEC	breast
6	chr20:15285800-15291000	Weak transcription	HMEC	breast
7	chr20:15289400-15290800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr20:15290600-15291600	Enhancers	HUVEC	blood vessel
9	chr20:15290600-15292600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:15290800-15291000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr20:15291000-15291400	Enhancers	HMEC	breast
12	chr20:15291000-15291600	Enhancers	Primary B cells from peripheral blood	blood
13	chr20:15291000-15291800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr20:15291200-15291600	Enhancers	Hela-S3	cervix
15	chr20:15291600-15297000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr20:15291800-15292400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr20:15293800-15294200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr20:15294800-15295200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr20:15295400-15297200	Enhancers	GM12878-XiMat	blood
20	chr20:15296000-15296200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr20:15296200-15297200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr20:15296200-15298400	Weak transcription	Primary B cells from cord blood	blood
23	chr20:15296600-15296800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr20:15296800-15297400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr20:15297000-15297400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr20:15297200-15298000	Flanking Active TSS	GM12878-XiMat	blood
27	chr20:15297200-15301000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr20:15297400-15298200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr20:15297400-15298600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr20:15298000-15298400	Active TSS	GM12878-XiMat	blood
31	chr20:15298200-15298400	Enhancers	Primary B cells from peripheral blood	blood
32	chr20:15298200-15298600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr20:15298400-15298600	Flanking Active TSS	GM12878-XiMat	blood
34	chr20:15298400-15298800	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr20:15298400-15299800	Active TSS	Primary B cells from cord blood	blood
36	chr20:15298600-15298800	Active TSS	GM12878-XiMat	blood
37	chr20:15298600-15299000	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr20:15298800-15299200	Flanking Active TSS	GM12878-XiMat	blood
39	chr20:15298800-15302000	Enhancers	Primary B cells from peripheral blood	blood
40	chr20:15299000-15299800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr20:15299200-15299600	Active TSS	GM12878-XiMat	blood
42	chr20:15299600-15300400	Flanking Active TSS	GM12878-XiMat	blood
43	chr20:15299800-15300000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr20:15300000-15300400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr20:15300400-15302000	Enhancers	GM12878-XiMat	blood
46	chr20:15300600-15302000	Enhancers	Psoas Muscle	Psoas
47	chr20:15300800-15301600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr20:15300800-15302400	Enhancers	HMEC	breast
49	chr20:15301000-15302000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr20:15301000-15302400	Enhancers	Fetal Heart	heart

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