Variant report

Variant	esv3383638
Chromosome Location	chr1:57608364-57611612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8B-2	chr1:57611090-57611102	NONHSAT003475

Extended variants
information (count: 140 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556787857	chr1:57608377-57608378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182372011	chr1:57608380-57608381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542691995	chr1:57608404-57608405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553293956	chr1:57608426-57608427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573208058	chr1:57608463-57608464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187851868	chr1:57608487-57608488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35635155	chr1:57608489-57608490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74077266	chr1:57608494-57608495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530635393	chr1:57608523-57608524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543858721	chr1:57608550-57608551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563633603	chr1:57608558-57608559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529250234	chr1:57608613-57608614	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192884227	chr1:57608647-57608648	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566018993	chr1:57608676-57608677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528789037	chr1:57608698-57608699	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368713322	chr1:57608716-57608717	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571770439	chr1:57608750-57608751	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537248147	chr1:57608752-57608753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184894770	chr1:57608830-57608831	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139480371	chr1:57608840-57608841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370910379	chr1:57608857-57608858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575633484	chr1:57608908-57608909	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144283487	chr1:57608919-57608920	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553032052	chr1:57608925-57608926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190239020	chr1:57608962-57608963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550511	chr1:57608989-57608990	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs200446216	chr1:57609032-57609033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566543606	chr1:57609041-57609042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147790400	chr1:57609060-57609061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17420873	chr1:57609070-57609071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563797842	chr1:57609080-57609081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200235363	chr1:57609117-57609118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573832763	chr1:57609180-57609181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542592502	chr1:57609190-57609191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59973987	chr1:57609193-57609194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528474266	chr1:57609197-57609198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552002124	chr1:57609212-57609213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55750012	chr1:57609297-57609298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144776724	chr1:57609298-57609299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374442100	chr1:57609337-57609338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550926646	chr1:57609352-57609353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192269763	chr1:57609377-57609378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536323558	chr1:57609420-57609421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529764391	chr1:57609436-57609437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546733885	chr1:57609478-57609479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17115200	chr1:57609479-57609480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538641202	chr1:57609485-57609486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569589839	chr1:57609499-57609500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147069646	chr1:57609500-57609501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558811745	chr1:57609562-57609563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57589400-57608600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57602200-57609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57605000-57608400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:57608200-57609200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:57608400-57609000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:57608400-57609000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:57608400-57609000	Enhancers	NHDF-Ad	bronchial
9	chr1:57608600-57609000	Strong transcription	Fetal Intestine Large	intestine
10	chr1:57609000-57611600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:57609000-57621800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:57609200-57611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:57611400-57613400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:57611600-57612000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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