Variant report

Variant	esv3454145
Chromosome Location	chr20:16078916-16085462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 256 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:256 , 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	rs574367824	chr20:16078917-16078918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150357383	chr20:16078952-16078953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560079382	chr20:16078976-16078977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375256457	chr20:16079003-16079004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16997152	chr20:16079043-16079044	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552393908	chr20:16079095-16079096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187425846	chr20:16079159-16079160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531624128	chr20:16079164-16079165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192226983	chr20:16079172-16079173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs775142	chr20:16079190-16079191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536154105	chr20:16079224-16079225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77108903	chr20:16079270-16079271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566153834	chr20:16079297-16079298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539978869	chr20:16079310-16079311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558381565	chr20:16079330-16079331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576854122	chr20:16079344-16079345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6034383	chr20:16079401-16079402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185529190	chr20:16079407-16079408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150802499	chr20:16079475-16079476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397966994	chr20:16079486-16079487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201360621	chr20:16079487-16079488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370885698	chr20:16079533-16079534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35570034	chr20:16079591-16079592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6105525	chr20:16079600-16079601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6105526	chr20:16079640-16079641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557743452	chr20:16079678-16079679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571206759	chr20:16079772-16079773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113006597	chr20:16079822-16079823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190398199	chr20:16079838-16079839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572168874	chr20:16079843-16079844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545948342	chr20:16079884-16079885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564457883	chr20:16079955-16079956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531818845	chr20:16079969-16079970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546125574	chr20:16080019-16080020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1885939	chr20:16080071-16080072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562056899	chr20:16080096-16080097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529266637	chr20:16080110-16080111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548115106	chr20:16080117-16080118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112012281	chr20:16080119-16080120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146184682	chr20:16080123-16080124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193293363	chr20:16080141-16080142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184257904	chr20:16080150-16080151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201908624	chr20:16080219-16080220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574570198	chr20:16080222-16080223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567721303	chr20:16080236-16080237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535055140	chr20:16080238-16080239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553797766	chr20:16080252-16080253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77539103	chr20:16080309-16080310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555827538	chr20:16080314-16080315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76333956	chr20:16080318-16080319	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16073200-16079600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr20:16074600-16079600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr20:16076600-16079600	Weak transcription	Ovary	ovary
4	chr20:16078200-16084000	Enhancers	Primary B cells from cord blood	blood
5	chr20:16079400-16082400	Enhancers	HepG2	liver
6	chr20:16079600-16080400	Enhancers	Primary B cells from peripheral blood	blood
7	chr20:16079600-16080400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr20:16079600-16081600	Enhancers	Ovary	ovary
9	chr20:16079800-16082400	Enhancers	Liver	Liver
10	chr20:16080400-16080600	Enhancers	Psoas Muscle	Psoas
11	chr20:16080400-16081400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:16080400-16081800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr20:16080600-16081000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:16080600-16081200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr20:16080800-16081200	Enhancers	Fetal Lung	lung
16	chr20:16081000-16081800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:16081000-16083800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:16081400-16081600	Enhancers	Psoas Muscle	Psoas
19	chr20:16081400-16081800	Enhancers	Right Atrium	heart
20	chr20:16081400-16082200	Enhancers	Left Ventricle	heart
21	chr20:16081800-16084200	Enhancers	Primary B cells from peripheral blood	blood
22	chr20:16081800-16087600	Weak transcription	Right Atrium	heart
23	chr20:16083400-16084600	Enhancers	Colon Smooth Muscle	Colon
24	chr20:16083600-16084600	Enhancers	Rectal Smooth Muscle	rectum
25	chr20:16083800-16085200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:16084000-16084600	Weak transcription	Primary B cells from cord blood	blood
27	chr20:16084000-16084600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr20:16084200-16085200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr20:16084400-16086400	Enhancers	Primary hematopoietic stem cells	blood
30	chr20:16084600-16085200	Enhancers	Primary B cells from cord blood	blood
31	chr20:16084600-16086200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:16084600-16087600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr20:16084600-16088200	Weak transcription	Colon Smooth Muscle	Colon
34	chr20:16084800-16086000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr20:16084800-16086200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr20:16085200-16085800	Enhancers	Primary B cells from peripheral blood	blood
37	chr20:16085200-16086800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:16085200-16089600	Weak transcription	Primary B cells from cord blood	blood

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