Variant report

Variant	nsv964383
Chromosome Location	chr20:23902782-23905019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CST5-1	chr20:23904588-23904694	NONHSAT079090

Extended variants
information (count: 107 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6083322	chr20:23902800-23902801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs35436043	chr20:23902803-23902804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs1622461	chr20:23902884-23902885	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192002902	chr20:23902891-23902892	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs541032589	chr20:23902909-23902910	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs112880046	chr20:23902948-23902949	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs557325770	chr20:23902950-23902951	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs146572243	chr20:23902962-23902963	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs574784897	chr20:23902978-23902979	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs542780582	chr20:23902998-23902999	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs542142947	chr20:23903009-23903010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559445309	chr20:23903033-23903034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141356785	chr20:23903039-23903040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569859767	chr20:23903102-23903103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565271132	chr20:23903156-23903157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375378917	chr20:23903177-23903178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386813442	chr20:23903201-23903202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374399771	chr20:23903203-23903204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183373298	chr20:23903215-23903216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550051855	chr20:23903218-23903219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6114371	chr20:23903226-23903227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6114372	chr20:23903264-23903265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569809347	chr20:23903268-23903269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529115578	chr20:23903288-23903289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188330710	chr20:23903335-23903336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563510580	chr20:23903343-23903344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192601215	chr20:23903390-23903391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539129649	chr20:23903413-23903414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369967620	chr20:23903418-23903419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149813179	chr20:23903426-23903427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79909436	chr20:23903430-23903431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531148257	chr20:23903443-23903444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78271360	chr20:23903565-23903566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549567757	chr20:23903625-23903626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557652250	chr20:23903634-23903635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574225517	chr20:23903638-23903639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564995726	chr20:23903642-23903643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35794589	chr20:23903678-23903679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6049235	chr20:23903691-23903692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6049236	chr20:23903721-23903722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553133282	chr20:23903776-23903777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532153990	chr20:23903829-23903830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149208614	chr20:23903842-23903843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552664999	chr20:23903918-23903919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573039754	chr20:23903919-23903920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73905807	chr20:23903954-23903955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565186179	chr20:23903961-23903962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372602302	chr20:23903972-23903973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2995100	chr20:23903973-23903974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544246783	chr20:23903975-23903976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21364760	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23897400-23903000	Enhancers	Fetal Muscle Trunk	muscle
2	chr20:23897400-23903200	Enhancers	Fetal Muscle Leg	muscle
3	chr20:23898600-23903200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr20:23899400-23903400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr20:23899600-23903000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr20:23899800-23902800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:23900000-23902800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:23900000-23902800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr20:23902000-23904400	Weak transcription	Pancreas	Pancrea
10	chr20:23902000-23907800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:23902000-23907800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr20:23902200-23907200	Weak transcription	NHDF-Ad	bronchial
13	chr20:23902400-23909200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:23902600-23906400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr20:23902600-23907600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr20:23902600-23909200	Weak transcription	Fetal Thymus	thymus
17	chr20:23902800-23903000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:23902800-23903400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:23902800-23905800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr20:23903000-23904000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:23903000-23904000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr20:23903200-23903600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr20:23903200-23904400	Weak transcription	Fetal Muscle Leg	muscle
24	chr20:23903600-23904200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr20:23904000-23904200	Enhancers	Fetal Muscle Trunk	muscle
26	chr20:23904000-23904400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr20:23904200-23904800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr20:23904400-23905200	Enhancers	Fetal Muscle Leg	muscle
29	chr20:23904400-23907000	Enhancers	Pancreas	Pancrea
30	chr20:23904600-23904800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr20:23904600-23906000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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