Variant report

Variant	esv3342719
Chromosome Location	chr20:23846789-23847230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6138149	chr20:23846840-23846841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543300723	chr20:23846916-23846917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114677432	chr20:23846924-23846925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73318766	chr20:23846956-23846957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192033890	chr20:23846958-23846959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139810211	chr20:23846959-23846960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372004863	chr20:23846974-23846975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528081784	chr20:23846997-23846998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558855336	chr20:23847008-23847009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6138150	chr20:23847009-23847010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
11	rs183348994	chr20:23847012-23847013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537325622	chr20:23847023-23847024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552982629	chr20:23847027-23847028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117510806	chr20:23847028-23847029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115551832	chr20:23847039-23847040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145503112	chr20:23847053-23847054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368152864	chr20:23847071-23847072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553435576	chr20:23847077-23847078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187154633	chr20:23847151-23847152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545460297	chr20:23847160-23847161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6049191	chr20:23847165-23847166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191549086	chr20:23847170-23847171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6138151	chr20:23847180-23847181	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148883557	chr20:23847185-23847186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529110040	chr20:23847188-23847189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542415099	chr20:23847193-23847194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183703456	chr20:23847198-23847199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550988360	chr20:23847215-23847216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73318768	chr20:23847217-23847218	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530390785	chr20:23847224-23847225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186475594	chr20:23847230-23847231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23833000-23846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23839200-23847000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr20:23839400-23847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr20:23841200-23847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:23841400-23847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr20:23844800-23847000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:23846800-23847000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:23847000-23847200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:23847000-23847200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:23847000-23847800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23847000-23848200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr20:23847000-23848200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:23847000-23848400	Enhancers	Fetal Thymus	thymus
14	chr20:23847000-23848800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr20:23847000-23848800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr20:23847000-23849200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr20:23847000-23852400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr20:23847200-23847600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr20:23847200-23848800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:23847200-23849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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