Variant report

Variant	nsv965898
Chromosome Location	chr20:25966918-25978277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-6	chr20:25968084-25968225	NONHSAT079206

Extended variants
information (count: 230 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528927706	chr20:25966921-25966922	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548389040	chr20:25966934-25966935	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187616434	chr20:25966957-25966958	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs527857424	chr20:25966987-25966988	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548113523	chr20:25966997-25966998	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs141319166	chr20:25967004-25967005	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565896816	chr20:25967007-25967008	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539846644	chr20:25967029-25967030	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192190302	chr20:25967041-25967042	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184268763	chr20:25967043-25967044	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535988729	chr20:25967047-25967048	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372403765	chr20:25967063-25967064	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs150182771	chr20:25967067-25967068	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188692191	chr20:25967141-25967142	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539825060	chr20:25967151-25967152	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540860284	chr20:25967160-25967161	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558040926	chr20:25967182-25967183	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577467671	chr20:25967185-25967186	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376710180	chr20:25967188-25967189	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs138724182	chr20:25967202-25967203	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149000129	chr20:25967213-25967214	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573282790	chr20:25967223-25967224	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181252500	chr20:25967237-25967238	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559177771	chr20:25967268-25967269	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527924467	chr20:25967284-25967285	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369003009	chr20:25967299-25967300	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375580626	chr20:25967413-25967414	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564826407	chr20:25967414-25967415	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184660175	chr20:25967419-25967420	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550482539	chr20:25967452-25967453	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570093918	chr20:25967455-25967456	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535848670	chr20:25967572-25967573	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs8114933	chr20:25967588-25967589	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566001437	chr20:25967708-25967709	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs370175428	chr20:25967722-25967723	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557639387	chr20:25967734-25967735	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73348100	chr20:25967738-25967739	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138581855	chr20:25967745-25967746	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143972774	chr20:25967790-25967791	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573346083	chr20:25967812-25967813	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542247502	chr20:25967831-25967832	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559403937	chr20:25967833-25967834	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572825311	chr20:25967882-25967883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541630684	chr20:25967888-25967889	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189173546	chr20:25967896-25967897	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533543399	chr20:25967906-25967907	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11696569	chr20:25967923-25967924	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs563963866	chr20:25967926-25967927	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529316554	chr20:25967933-25967934	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55760944	chr20:25967949-25967950	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25965000-25968600	Active TSS	Brain Germinal Matrix	brain
2	chr20:25965800-25967200	Weak transcription	Esophagus	oesophagus
3	chr20:25966000-25967400	Weak transcription	Right Atrium	heart
4	chr20:25966000-25967600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:25966000-25967600	Weak transcription	Aorta	Aorta
6	chr20:25966000-25967600	Weak transcription	HSMM	muscle
7	chr20:25966000-25967800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr20:25966000-25967800	Weak transcription	Gastric	stomach
9	chr20:25966000-25967800	Weak transcription	Left Ventricle	heart
10	chr20:25966000-25967800	Weak transcription	Ovary	ovary
11	chr20:25966000-25967800	Weak transcription	Psoas Muscle	Psoas
12	chr20:25966200-25967600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr20:25966200-25967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr20:25966200-25967600	Weak transcription	Colon Smooth Muscle	Colon
15	chr20:25966200-25967600	Weak transcription	Right Ventricle	heart
16	chr20:25966200-25967600	Weak transcription	Thymus	Thymus
17	chr20:25966400-25967400	Weak transcription	Brain Substantia Nigra	brain
18	chr20:25966400-25967600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr20:25966400-25967600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr20:25966400-25967600	Weak transcription	Brain Anterior Caudate	brain
21	chr20:25966400-25967600	Weak transcription	Brain Hippocampus Middle	brain
22	chr20:25966400-25967600	Weak transcription	K562	blood
23	chr20:25966400-25967800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr20:25966600-25967600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr20:25966600-25967600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr20:25966600-25967600	Weak transcription	Pancreas	Pancrea
27	chr20:25966800-25967600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr20:25966800-25967600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr20:25966800-25967600	Weak transcription	Fetal Brain Female	brain
30	chr20:25967000-25967200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
31	chr20:25967000-25967800	Enhancers	Lung	lung
32	chr20:25967000-25968200	Enhancers	Placenta	Placenta
33	chr20:25967200-25967600	Enhancers	Fetal Muscle Leg	muscle
34	chr20:25967200-25967800	Enhancers	Esophagus	oesophagus
35	chr20:25967400-25967600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr20:25967400-25967600	Enhancers	Adipose Nuclei	Adipose
37	chr20:25967400-25967800	Enhancers	Brain Substantia Nigra	brain
38	chr20:25967400-25967800	Enhancers	Right Atrium	heart
39	chr20:25967600-25967800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr20:25967600-25967800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:25967600-25967800	Enhancers	Primary B cells from peripheral blood	blood
42	chr20:25967600-25967800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr20:25967600-25967800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr20:25967600-25967800	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr20:25967600-25967800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr20:25967600-25967800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr20:25967600-25967800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr20:25967600-25967800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:25967600-25967800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr20:25967600-25967800	Flanking Active TSS	Brain Anterior Caudate	brain

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