Variant report

Variant	nsv945968
Chromosome Location	chr1:58071136-58073409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:58073283-58073482	HepG2	liver:	n/a	chr1:58073399-58073408

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8B-3	chr1:58071519-58071878	NONHSAT003477

Variant related genes	Relation type
RPS20P5	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111658598	chr1:58071227-58071228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539497967	chr1:58071231-58071232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556119732	chr1:58071391-58071392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4912266	chr1:58071430-58071431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs542136631	chr1:58071457-58071458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569730641	chr1:58071468-58071469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536701428	chr1:58071469-58071470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201693495	chr1:58071478-58071479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200419530	chr1:58071479-58071480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576036371	chr1:58071491-58071492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555735377	chr1:58071513-58071514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373245959	chr1:58071534-58071535	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs371734789	chr1:58071549-58071550	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs572608579	chr1:58071554-58071555	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs375954620	chr1:58071617-58071618	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs61769602	chr1:58071631-58071632	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs541254405	chr1:58071634-58071635	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs564252793	chr1:58071644-58071645	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs191473187	chr1:58071680-58071681	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112008823	chr1:58071684-58071685	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs543478403	chr1:58071690-58071691	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs367887388	chr1:58071718-58071719	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs370428922	chr1:58071719-58071720	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs374428589	chr1:58071720-58071721	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs398073967	chr1:58071721-58071722	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs397957214	chr1:58071722-58071723	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563288613	chr1:58071787-58071788	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528867976	chr1:58071819-58071820	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs367855105	chr1:58071832-58071833	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs144281441	chr1:58071842-58071843	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs565797895	chr1:58071846-58071847	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs528331098	chr1:58071860-58071861	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs10736394	chr1:58071960-58071961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570954776	chr1:58071961-58071962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184685679	chr1:58071978-58071979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112558844	chr1:58071989-58071990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369982501	chr1:58072048-58072049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369222646	chr1:58072049-58072050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58167700	chr1:58072063-58072064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71051241	chr1:58072064-58072065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368292962	chr1:58072065-58072066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372268093	chr1:58072067-58072068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72388336	chr1:58072175-58072176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61308488	chr1:58072185-58072186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371830796	chr1:58072191-58072192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376654701	chr1:58072200-58072201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367718985	chr1:58072201-58072202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11588587	chr1:58072235-58072236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376381766	chr1:58072236-58072237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374907138	chr1:58072252-58072253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58065800-58071600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:58066000-58077200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:58066000-58089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:58066400-58089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:58066600-58074400	Weak transcription	Fetal Heart	heart
6	chr1:58067600-58071200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:58069400-58072000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:58069800-58071600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:58069800-58085400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:58070000-58071400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:58070200-58071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:58070600-58072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:58070800-58072000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:58071000-58071200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:58071000-58071800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:58071000-58071800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:58071200-58071400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:58071200-58071600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:58071200-58071600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:58071200-58072000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:58071400-58071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:58071600-58072000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:58071600-58072000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:58071800-58073600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:58072000-58072400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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