Variant report

Variant	nsv870802
Chromosome Location	chr1:57965114-58037031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57957161..57959249-chr1:57964483..57967237,2	K562	blood:
2	chr1:57972252..57973978-chr1:58083473..58085053,2	K562	blood:

Extended variants
information (count: 2241 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2241 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12117185	chr1:57965114-57965115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559674824	chr1:57965194-57965195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191250523	chr1:57965220-57965221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527707073	chr1:57965251-57965252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569058107	chr1:57965257-57965258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184678320	chr1:57965292-57965293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142371215	chr1:57965312-57965313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115636435	chr1:57965319-57965320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536694784	chr1:57965332-57965333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553411976	chr1:57965371-57965372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113898181	chr1:57965421-57965422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2805880	chr1:57965430-57965431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147910606	chr1:57965433-57965434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559014172	chr1:57965449-57965450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368707138	chr1:57965474-57965475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544521051	chr1:57965509-57965510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114006690	chr1:57965519-57965520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550579754	chr1:57965532-57965533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539902640	chr1:57965542-57965543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375093902	chr1:57965565-57965566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531956835	chr1:57965578-57965579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148872153	chr1:57965584-57965585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562678757	chr1:57965711-57965712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34395117	chr1:57965740-57965741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189541075	chr1:57965778-57965779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181544036	chr1:57965806-57965807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111613737	chr1:57965841-57965842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530018165	chr1:57965865-57965866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548084331	chr1:57965866-57965867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568218567	chr1:57965870-57965871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2691452	chr1:57965872-57965873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372968453	chr1:57965875-57965876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566948444	chr1:57965909-57965910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538692896	chr1:57965946-57965947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558902533	chr1:57965963-57965964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569499189	chr1:57965970-57965971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143531376	chr1:57965978-57965979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554876062	chr1:57966009-57966010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574660205	chr1:57966037-57966038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539965018	chr1:57966137-57966138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148039356	chr1:57966155-57966156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576518793	chr1:57966181-57966182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545524702	chr1:57966262-57966263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528010835	chr1:57966352-57966353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201893790	chr1:57966414-57966415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78396057	chr1:57966423-57966424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566230901	chr1:57966477-57966478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140856878	chr1:57966526-57966527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1341320	chr1:57966528-57966529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
50	rs542072325	chr1:57966567-57966568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57955200-57972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57964600-57965800	Weak transcription	Fetal Brain Female	brain
3	chr1:57964600-57967200	Enhancers	Fetal Brain Male	brain
4	chr1:57966600-57967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:57966800-57967200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:57967000-57967400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:57968600-57969600	Enhancers	Stomach Mucosa	stomach
8	chr1:57971400-57974800	Weak transcription	Fetal Brain Female	brain
9	chr1:57971600-57972200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57971800-57972400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57972800-57973400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:57974800-57975200	Enhancers	Fetal Brain Female	brain
13	chr1:57975200-57978200	Weak transcription	Fetal Brain Female	brain
14	chr1:57978000-57979000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:57978200-57978400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:57978200-57978600	Enhancers	Fetal Brain Female	brain
17	chr1:57978400-57979000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:57978400-57979000	Enhancers	Brain Germinal Matrix	brain
19	chr1:57978400-57979000	Enhancers	Fetal Brain Male	brain
20	chr1:57978400-57979000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:57978600-57980000	Weak transcription	Fetal Brain Female	brain
22	chr1:57979000-57979200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:57979200-57983000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:57979400-57983000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:57980000-57980200	Enhancers	Fetal Brain Female	brain
26	chr1:57980200-57980400	Weak transcription	Fetal Brain Female	brain
27	chr1:57981200-57981400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:57981400-57981600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:57981800-57983000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:57982000-57983400	Enhancers	Hela-S3	cervix
31	chr1:57983000-57983200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:57983000-57983800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:57983000-57984000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:57983000-57984000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:57983000-57984000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:57983000-57984200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:57983000-57984600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:57983000-57984600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:57983000-57984800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:57983000-57985000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:57983200-57983600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr1:57983200-57984200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:57983200-57985200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:57983400-57983800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:57983400-57984000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr1:57983400-57984000	Flanking Active TSS	Hela-S3	cervix
47	chr1:57983400-57984400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:57983600-57984000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:57983800-57984800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:57983800-57988400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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