Variant report

Variant	esv3454534
Chromosome Location	chr20:14271929-14279568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 290 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536350385	chr20:14271970-14271971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74988130	chr20:14271993-14271994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118035944	chr20:14272006-14272007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544649830	chr20:14272025-14272026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538466635	chr20:14272034-14272035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138517354	chr20:14272065-14272066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578152585	chr20:14272074-14272075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540823073	chr20:14272110-14272111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560308031	chr20:14272139-14272140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143842365	chr20:14272150-14272151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537535229	chr20:14272229-14272230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60802570	chr20:14272265-14272266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113280846	chr20:14272278-14272279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs207477410	chr20:14272284-14272285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542692921	chr20:14272354-14272355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562568465	chr20:14272370-14272371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531756659	chr20:14272400-14272401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6110229	chr20:14272429-14272430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183777848	chr20:14272430-14272431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188311621	chr20:14272484-14272485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191909630	chr20:14272489-14272490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557416206	chr20:14272528-14272529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538998652	chr20:14272559-14272560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567459392	chr20:14272635-14272636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184152371	chr20:14272675-14272676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556314641	chr20:14272714-14272715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569615840	chr20:14272716-14272717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538637192	chr20:14272826-14272827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558218626	chr20:14272859-14272860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147232398	chr20:14272863-14272864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578227906	chr20:14272886-14272887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140713024	chr20:14272903-14272904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553977875	chr20:14272919-14272920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143153680	chr20:14272928-14272929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542786853	chr20:14272934-14272935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188290347	chr20:14272939-14272940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2038505	chr20:14272947-14272948	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545390709	chr20:14272974-14272975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565133177	chr20:14273050-14273051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114115071	chr20:14273069-14273070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547699327	chr20:14273105-14273106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6110230	chr20:14273106-14273107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567496847	chr20:14273153-14273154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144726065	chr20:14273160-14273161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549961532	chr20:14273182-14273183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569734693	chr20:14273266-14273267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148463469	chr20:14273276-14273277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552188613	chr20:14273350-14273351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565521750	chr20:14273359-14273360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368796114	chr20:14273369-14273370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14270000-14274400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:14270400-14273200	Enhancers	NHEK	skin
3	chr20:14270800-14272000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:14271000-14272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:14271800-14273200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14271800-14273200	Enhancers	HMEC	breast
7	chr20:14272000-14272200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr20:14272000-14272800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:14272000-14273200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:14273200-14275000	Weak transcription	HMEC	breast
11	chr20:14273200-14275600	Weak transcription	NHEK	skin
12	chr20:14273200-14276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:14273200-14278200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:14274400-14275400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr20:14274400-14276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:14274600-14275800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:14275000-14275800	Enhancers	HMEC	breast
18	chr20:14275600-14276000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr20:14275600-14276600	Enhancers	NHEK	skin
20	chr20:14275800-14276200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:14276000-14276200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:14276000-14276800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:14276600-14279200	Weak transcription	NHEK	skin
24	chr20:14278200-14278800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:14278800-14280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14279200-14279600	Enhancers	NHEK	skin

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