Variant report

Variant	esv3419553
Chromosome Location	chr20:12791852-12795850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TASP1-4	chr20:12793850-12794325	NONHSAT078658
2	lnc-TASP1-4	chr20:12795152-12795253	NONHSAT078658

Extended variants
information (count: 36 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566120937	chr20:12793911-12793912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535270184	chr20:12793996-12793997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs186792506	chr20:12794014-12794015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs373277741	chr20:12794015-12794016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs534076961	chr20:12794037-12794038	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs556956346	chr20:12794064-12794065	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs576890819	chr20:12794085-12794086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs1739573	chr20:12794193-12794194	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113183364	chr20:12794196-12794197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572946421	chr20:12794270-12794271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs192498375	chr20:12794284-12794285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370573854	chr20:12794317-12794318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs34474126	chr20:12795173-12795174	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34215415	chr20:12795180-12795181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs6041633	chr20:12795204-12795205	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559945837	chr20:12795224-12795225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs75616406	chr20:12795250-12795251	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs1237439	chr20:12795400-12795401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs189042164	chr20:12795409-12795410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547730168	chr20:12795434-12795435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62203100	chr20:12795435-12795436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141204737	chr20:12795533-12795534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181186792	chr20:12795546-12795547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145017677	chr20:12795548-12795549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138825849	chr20:12795573-12795574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111434883	chr20:12795579-12795580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34106293	chr20:12795602-12795603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150431809	chr20:12795627-12795628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557727859	chr20:12795633-12795634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6041634	chr20:12795682-12795683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539818053	chr20:12795685-12795686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560108089	chr20:12795750-12795751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146750334	chr20:12795763-12795764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370318575	chr20:12795764-12795765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116446007	chr20:12795836-12795837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542291433	chr20:12795844-12795845	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12795400-12796600	Enhancers	Fetal Stomach	stomach
2	chr20:12795600-12796400	Enhancers	Fetal Muscle Leg	muscle
3	chr20:12795600-12796400	Enhancers	Ovary	ovary

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