Variant report

Variant	esv3341421
Chromosome Location	chr20:14129152-14132550
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	chr20:14129066..14131439-chr20:14132476..14135215,3	MCF-7	breast:
2	chr20:14129066..14131439-chr20:14132476..14135215,3	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372052620	chr20:14129154-14129155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552709772	chr20:14129209-14129210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149775581	chr20:14129293-14129294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145684623	chr20:14129402-14129403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148955218	chr20:14129434-14129435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534919606	chr20:14129449-14129450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548677077	chr20:14129461-14129462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147073749	chr20:14129482-14129483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568511502	chr20:14129483-14129484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373776888	chr20:14129507-14129508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537431357	chr20:14129653-14129654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116583884	chr20:14129693-14129694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34555470	chr20:14129743-14129744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189098847	chr20:14129771-14129772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539274263	chr20:14129804-14129805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11087076	chr20:14129838-14129839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553169719	chr20:14129842-14129843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397811661	chr20:14129851-14129852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138385531	chr20:14129913-14129914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541571994	chr20:14129924-14129925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142202963	chr20:14129937-14129938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62209519	chr20:14129978-14129979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574904891	chr20:14129991-14129992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575660026	chr20:14129995-14129996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544253974	chr20:14130030-14130031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563848448	chr20:14130034-14130035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13042137	chr20:14130105-14130106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546164694	chr20:14130211-14130212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200727371	chr20:14130265-14130266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376897208	chr20:14130279-14130280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559922383	chr20:14130291-14130292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145922167	chr20:14130292-14130293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571506524	chr20:14130345-14130346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6135073	chr20:14130365-14130366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17226908	chr20:14130483-14130484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568521745	chr20:14130498-14130499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530952487	chr20:14130546-14130547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550919978	chr20:14130600-14130601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570743761	chr20:14130650-14130651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6079322	chr20:14130685-14130686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552990623	chr20:14130794-14130795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373095880	chr20:14130814-14130815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576501283	chr20:14130840-14130841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111639010	chr20:14130861-14130862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541921978	chr20:14130949-14130950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531271305	chr20:14131058-14131059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113699852	chr20:14131215-14131216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113215907	chr20:14131216-14131217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574964881	chr20:14131232-14131233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182490983	chr20:14131254-14131255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	17142309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14123200-14129600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:14126400-14134000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:14127800-14129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:14128400-14129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:14129600-14129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr20:14129600-14130200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:14130200-14131400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:14131400-14132200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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