Variant report

Variant	esv3454899
Chromosome Location	chr20:15435347-15436804
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	chr20:15430826..15432876-chr20:15434681..15437679,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527634682	chr20:15435410-15435411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556009744	chr20:15435421-15435422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371795283	chr20:15435476-15435477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202162311	chr20:15435480-15435481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547401390	chr20:15435487-15435488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558343396	chr20:15435493-15435494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6079836	chr20:15435564-15435565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537514453	chr20:15435588-15435589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147195654	chr20:15435600-15435601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140459278	chr20:15435609-15435610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377748896	chr20:15435618-15435619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6079837	chr20:15435619-15435620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76148252	chr20:15435634-15435635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202147473	chr20:15435669-15435670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149337207	chr20:15435672-15435673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542987659	chr20:15435677-15435678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16995786	chr20:15435708-15435709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564101810	chr20:15435713-15435714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575235265	chr20:15435730-15435731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535300036	chr20:15435732-15435733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200163204	chr20:15435733-15435734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6079838	chr20:15435756-15435757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs572391488	chr20:15435774-15435775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534566348	chr20:15435807-15435808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543288518	chr20:15435818-15435819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144602297	chr20:15435820-15435821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529457121	chr20:15435828-15435829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77263923	chr20:15435843-15435844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566089221	chr20:15435876-15435877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557773118	chr20:15435921-15435922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188019818	chr20:15435980-15435981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533620446	chr20:15435995-15435996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6074898	chr20:15436002-15436003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs548087619	chr20:15436068-15436069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34206223	chr20:15436105-15436106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148412112	chr20:15436112-15436113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537634784	chr20:15436164-15436165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374586223	chr20:15436173-15436174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192352667	chr20:15436258-15436259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535212197	chr20:15436261-15436262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6079839	chr20:15436282-15436283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142499232	chr20:15436317-15436318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545660319	chr20:15436350-15436351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558020498	chr20:15436391-15436392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540116372	chr20:15436405-15436406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77879241	chr20:15436419-15436420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543602052	chr20:15436420-15436421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145931727	chr20:15436429-15436430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529366720	chr20:15436430-15436431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541541034	chr20:15436451-15436452	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15434600-15435800	Enhancers	Fetal Kidney	kidney
2	chr20:15435400-15437400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:15435600-15437400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr20:15436800-15437200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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