Variant report

Variant	esv3424095
Chromosome Location	chr20:16094018-16103817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 398 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141691481	chr20:16094025-16094026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59284496	chr20:16094042-16094043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187434563	chr20:16094073-16094074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190601034	chr20:16094079-16094080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555743911	chr20:16094089-16094090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368725144	chr20:16094094-16094095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553077165	chr20:16094107-16094108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575697607	chr20:16094121-16094122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544973406	chr20:16094149-16094150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557017129	chr20:16094167-16094168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575494544	chr20:16094172-16094173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72521847	chr20:16094173-16094174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201046510	chr20:16094175-16094176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202134732	chr20:16094176-16094177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200175277	chr20:16094179-16094180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200960403	chr20:16094182-16094183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182844246	chr20:16094197-16094198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560760531	chr20:16094204-16094205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528235376	chr20:16094209-16094210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4133488	chr20:16094213-16094214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565014161	chr20:16094216-16094217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36055612	chr20:16094220-16094221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532432852	chr20:16094263-16094264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2224734	chr20:16094361-16094362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61194224	chr20:16094364-16094365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2224735	chr20:16094380-16094381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6110911	chr20:16094413-16094414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532855893	chr20:16094419-16094420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567092954	chr20:16094455-16094456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534371464	chr20:16094461-16094462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553138541	chr20:16094462-16094463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552579638	chr20:16094467-16094468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2788924	chr20:16094505-16094506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1951780	chr20:16094529-16094530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575092097	chr20:16094532-16094533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146323317	chr20:16094561-16094562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552492944	chr20:16094586-16094587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61255907	chr20:16094590-16094591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2788925	chr20:16094598-16094599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572727612	chr20:16094613-16094614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187741540	chr20:16094662-16094663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57064955	chr20:16094667-16094668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565075642	chr20:16094710-16094711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2788926	chr20:16094740-16094741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs77434903	chr20:16094755-16094756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562909717	chr20:16094791-16094792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6135675	chr20:16094836-16094837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191727506	chr20:16094912-16094913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182751403	chr20:16094970-16094971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527929091	chr20:16094971-16094972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16088400-16106000	Weak transcription	Psoas Muscle	Psoas
2	chr20:16089000-16096600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:16092400-16096200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr20:16092800-16095800	Enhancers	Fetal Heart	heart
5	chr20:16093200-16096400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:16094000-16096200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:16095600-16096000	Enhancers	Left Ventricle	heart
8	chr20:16095800-16096000	Flanking Active TSS	Fetal Heart	heart
9	chr20:16096000-16096200	Enhancers	Fetal Heart	heart
10	chr20:16096000-16096400	Weak transcription	Left Ventricle	heart
11	chr20:16096200-16096400	Flanking Active TSS	Fetal Heart	heart
12	chr20:16096200-16096800	Enhancers	Fetal Brain Male	brain
13	chr20:16096200-16097200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:16096200-16097200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:16096200-16097400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:16096200-16098000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:16096400-16097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:16096400-16097000	Enhancers	Left Ventricle	heart
19	chr20:16096400-16097200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr20:16096400-16097400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr20:16096400-16097600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:16096400-16098200	Enhancers	Fetal Heart	heart
23	chr20:16096600-16097000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:16096600-16097000	Enhancers	HSMM	muscle
25	chr20:16096600-16097200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:16096600-16097400	Enhancers	Adipose Nuclei	Adipose
27	chr20:16096600-16097400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr20:16096600-16097600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:16096600-16098000	Enhancers	Fetal Lung	lung
30	chr20:16098000-16103600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:16100200-16102200	Enhancers	HepG2	liver
32	chr20:16100200-16102600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr20:16103600-16104000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr20:16103600-16104000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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