Variant report

Variant	nsv979794
Chromosome Location	chr3:164133543-164138805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-4	chr3:164137191-164137295	XLOC_002899
2	lnc-OTOL1-4	chr3:164136236-164136391	XLOC_002899

Extended variants
information (count: 89 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189191499	chr3:164134216-164134217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147905950	chr3:164134237-164134238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57692577	chr3:164134238-164134239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200748765	chr3:164134247-164134248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560823014	chr3:164134256-164134257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529288510	chr3:164134369-164134370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549395108	chr3:164134395-164134396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569138406	chr3:164134409-164134410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114545951	chr3:164134454-164134455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6782244	chr3:164134455-164134456	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571880211	chr3:164134469-164134470	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181799153	chr3:164134509-164134510	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143355918	chr3:164134514-164134515	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115201393	chr3:164134531-164134532	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536529827	chr3:164134584-164134585	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532568703	chr3:164134588-164134589	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556150686	chr3:164134619-164134620	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7650970	chr3:164134678-164134679	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545127628	chr3:164134692-164134693	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7651057	chr3:164134719-164134720	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185132123	chr3:164134736-164134737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7618193	chr3:164134783-164134784	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147109407	chr3:164134784-164134785	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs137932977	chr3:164134873-164134874	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11441520	chr3:164134892-164134893	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35274532	chr3:164134893-164134894	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201696916	chr3:164134946-164134947	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149449143	chr3:164134950-164134951	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562942425	chr3:164134969-164134970	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80319360	chr3:164134990-164134991	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143958935	chr3:164135040-164135041	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190417415	chr3:164135058-164135059	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75969151	chr3:164135073-164135074	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13324218	chr3:164135167-164135168	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548044330	chr3:164135168-164135169	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148626190	chr3:164135176-164135177	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13313898	chr3:164135182-164135183	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572780018	chr3:164135245-164135246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550194325	chr3:164135266-164135267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13059109	chr3:164135299-164135300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73877033	chr3:164135303-164135304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182199370	chr3:164135334-164135335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1435052	chr3:164135397-164135398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141203343	chr3:164135416-164135417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146255349	chr3:164135439-164135440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1435051	chr3:164135451-164135452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574537352	chr3:164135471-164135472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543711377	chr3:164135489-164135490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1435050	chr3:164135492-164135493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576406084	chr3:164135594-164135595	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164134200-164134400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:164134200-164135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:164134200-164135200	Enhancers	Adipose Nuclei	Adipose
4	chr3:164134400-164134800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:164134400-164135200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:164135200-164136400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164135800-164136400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:164136200-164136600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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