Variant report

Variant	esv3525015
Chromosome Location	chr20:14477290-14478959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11904856	chr20:14477341-14477342	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536838679	chr20:14477406-14477407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117435360	chr20:14477413-14477414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553926619	chr20:14477421-14477422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527744627	chr20:14477471-14477472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534179621	chr20:14477520-14477521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539709760	chr20:14477551-14477552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187809535	chr20:14477564-14477565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576716673	chr20:14477623-14477624	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548010997	chr20:14477735-14477736	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562381581	chr20:14477788-14477789	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574566499	chr20:14477842-14477843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192300554	chr20:14477908-14477909	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541972611	chr20:14477913-14477914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558706767	chr20:14477914-14477915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs79227669	chr20:14477975-14477976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527493601	chr20:14477996-14477997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs6135160	chr20:14478004-14478005	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78989265	chr20:14478035-14478036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567857704	chr20:14478052-14478053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs13040047	chr20:14478091-14478092	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140734858	chr20:14478104-14478105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562076909	chr20:14478117-14478118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568392298	chr20:14478164-14478165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529320017	chr20:14478185-14478186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200016651	chr20:14478192-14478193	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547500977	chr20:14478203-14478204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77351376	chr20:14478204-14478205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185251803	chr20:14478212-14478213	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7269525	chr20:14478215-14478216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6135161	chr20:14478249-14478250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs138150169	chr20:14478250-14478251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149552708	chr20:14478327-14478328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs6105279	chr20:14478367-14478368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113029092	chr20:14478380-14478381	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76447925	chr20:14478455-14478456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367028	chr20:14478501-14478502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189579649	chr20:14478538-14478539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116579795	chr20:14478541-14478542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545971362	chr20:14478574-14478575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549982772	chr20:14478626-14478627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564161231	chr20:14478629-14478630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531611369	chr20:14478648-14478649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554870574	chr20:14478675-14478676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563493125	chr20:14478732-14478733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543376152	chr20:14478799-14478800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562080588	chr20:14478833-14478834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529258046	chr20:14478873-14478874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547438388	chr20:14478889-14478890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139420231	chr20:14478896-14478897	Enhancers Weak transcription	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:22 , 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	chr20:14477200-14477600	Enhancers	HUVEC	blood vessel
4	chr20:14477200-14479200	Enhancers	Hela-S3	cervix
5	chr20:14477600-14477800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:14477600-14477800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:14477600-14478400	Flanking Active TSS	HUVEC	blood vessel
8	chr20:14477600-14479000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:14477800-14478000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:14477800-14478000	Enhancers	Fetal Lung	lung
11	chr20:14477800-14478200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:14477800-14478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr20:14478000-14479200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:14478200-14479000	Weak transcription	Fetal Lung	lung
15	chr20:14478200-14479400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:14478400-14479600	Enhancers	Brain Hippocampus Middle	brain
17	chr20:14478400-14479600	Enhancers	HUVEC	blood vessel
18	chr20:14478600-14478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr20:14478600-14478800	Enhancers	Lung	lung
20	chr20:14478600-14479600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr20:14478600-14479800	Enhancers	Fetal Kidney	kidney
22	chr20:14478600-14480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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