Variant report

Variant	esv3525012
Chromosome Location	chr20:14475602-14480050
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	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:

Extended variants
information (count: 144 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550487738	chr20:14475621-14475622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569060462	chr20:14475646-14475647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75668985	chr20:14475683-14475684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554916529	chr20:14475717-14475718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6079463	chr20:14475757-14475758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146683010	chr20:14475768-14475769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559038456	chr20:14475778-14475779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200355319	chr20:14475783-14475784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs408945	chr20:14475796-14475797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34533880	chr20:14475841-14475842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533340749	chr20:14475859-14475860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544724004	chr20:14475956-14475957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140281625	chr20:14475957-14475958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574995224	chr20:14475969-14475970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190598201	chr20:14475998-14475999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549879391	chr20:14476011-14476012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560418783	chr20:14476023-14476024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2327854	chr20:14476048-14476049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182827372	chr20:14476050-14476051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564573660	chr20:14476091-14476092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188133096	chr20:14476118-14476119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550672464	chr20:14476171-14476172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6135159	chr20:14476275-14476276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6105278	chr20:14476382-14476383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201150563	chr20:14476392-14476393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548456525	chr20:14476482-14476483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6074744	chr20:14476529-14476530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548571754	chr20:14476552-14476553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566767143	chr20:14476583-14476584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534119951	chr20:14476799-14476800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552587493	chr20:14476818-14476819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570848927	chr20:14476839-14476840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6042766	chr20:14476853-14476854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs428515	chr20:14476876-14476877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192910962	chr20:14476906-14476907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535650717	chr20:14476911-14476912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553986521	chr20:14476965-14476966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182594649	chr20:14476988-14476989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187727751	chr20:14476993-14476994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564511323	chr20:14477050-14477051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576787309	chr20:14477099-14477100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543929547	chr20:14477144-14477145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562604987	chr20:14477153-14477154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2327855	chr20:14477175-14477176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145132485	chr20:14477202-14477203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146839865	chr20:14477231-14477232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192576177	chr20:14477236-14477237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75609662	chr20:14477268-14477269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570719066	chr20:14477277-14477278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538243812	chr20:14477289-14477290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14460800-14477600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:14462600-14488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14471200-14477200	Weak transcription	Hela-S3	cervix
4	chr20:14475200-14476000	Enhancers	HMEC	breast
5	chr20:14477200-14477600	Enhancers	HUVEC	blood vessel
6	chr20:14477200-14479200	Enhancers	Hela-S3	cervix
7	chr20:14477600-14477800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:14477600-14477800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:14477600-14478400	Flanking Active TSS	HUVEC	blood vessel
10	chr20:14477600-14479000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:14477800-14478000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:14477800-14478000	Enhancers	Fetal Lung	lung
13	chr20:14477800-14478200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:14477800-14478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr20:14478000-14479200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:14478200-14479000	Weak transcription	Fetal Lung	lung
17	chr20:14478200-14479400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:14478400-14479600	Enhancers	Brain Hippocampus Middle	brain
19	chr20:14478400-14479600	Enhancers	HUVEC	blood vessel
20	chr20:14478600-14478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr20:14478600-14478800	Enhancers	Lung	lung
22	chr20:14478600-14479600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:14478600-14479800	Enhancers	Fetal Kidney	kidney
24	chr20:14478600-14480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:14479000-14479400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:14479000-14479800	Enhancers	Fetal Lung	lung
27	chr20:14479200-14479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr20:14479200-14479800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:14479200-14480000	Enhancers	Fetal Stomach	stomach
30	chr20:14479400-14479800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr20:14479400-14479800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:14479400-14479800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr20:14479400-14480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:14479400-14480400	Enhancers	Lung	lung
35	chr20:14479600-14479800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr20:14479600-14480000	Enhancers	Esophagus	oesophagus
37	chr20:14479600-14480600	Weak transcription	HUVEC	blood vessel
38	chr20:14479600-14484400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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