Variant report

Variant	nsv524251
Chromosome Location	chr1:56790773-56791609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12138574	chr1:56790773-56790774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187378573	chr1:56790774-56790775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192907602	chr1:56790779-56790780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3005907	chr1:56790785-56790786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs3005908	chr1:56790851-56790852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537706233	chr1:56790882-56790883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529320920	chr1:56790897-56790898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554903905	chr1:56790973-56790974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567660308	chr1:56790990-56790991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112487946	chr1:56791000-56791001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536684593	chr1:56791006-56791007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141643393	chr1:56791007-56791008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573286112	chr1:56791055-56791056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563375404	chr1:56791100-56791101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539147193	chr1:56791101-56791102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145088321	chr1:56791120-56791121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35456492	chr1:56791132-56791133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115497047	chr1:56791181-56791182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374172824	chr1:56791210-56791211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576276874	chr1:56791223-56791224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561296961	chr1:56791243-56791244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574087797	chr1:56791272-56791273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560353073	chr1:56791277-56791278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560114147	chr1:56791299-56791300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532318928	chr1:56791320-56791321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552256027	chr1:56791321-56791322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138960340	chr1:56791367-56791368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185469987	chr1:56791374-56791375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548494022	chr1:56791384-56791385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568397122	chr1:56791385-56791386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536625532	chr1:56791390-56791391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190349454	chr1:56791391-56791392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182523980	chr1:56791436-56791437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538717968	chr1:56791456-56791457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3005909	chr1:56791472-56791473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575747950	chr1:56791476-56791477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2994547	chr1:56791479-56791480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs3005910	chr1:56791494-56791495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183528194	chr1:56791495-56791496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540538297	chr1:56791519-56791520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559852443	chr1:56791575-56791576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576772888	chr1:56791592-56791593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12043349	chr1:56791609-56791610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56765200-56795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56768200-56791000	Weak transcription	Aorta	Aorta
3	chr1:56770000-56791200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:56770400-56792200	Weak transcription	Right Ventricle	heart
5	chr1:56780400-56793600	Weak transcription	Liver	Liver
6	chr1:56781800-56791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:56782000-56797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:56784200-56791000	Weak transcription	Ovary	ovary
9	chr1:56784200-56792200	Weak transcription	Lung	lung
10	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
11	chr1:56787200-56800600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:56787400-56791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:56787400-56793000	Weak transcription	Fetal Heart	heart
14	chr1:56788000-56791000	Weak transcription	NHDF-Ad	bronchial
15	chr1:56788400-56791400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:56788400-56796200	Weak transcription	Psoas Muscle	Psoas
17	chr1:56790400-56794800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:56791000-56791200	Enhancers	Aorta	Aorta
19	chr1:56791000-56791600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:56791000-56792400	Enhancers	Ovary	ovary
21	chr1:56791000-56792600	Enhancers	NHDF-Ad	bronchial
22	chr1:56791200-56791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:56791200-56791600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:56791200-56791800	Enhancers	HSMMtube	muscle
25	chr1:56791200-56792600	Enhancers	Osteobl	bone
26	chr1:56791200-56820800	Weak transcription	Aorta	Aorta
27	chr1:56791400-56791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:56791400-56791800	Enhancers	NH-A	brain
29	chr1:56791400-56791800	Enhancers	NHLF	lung
30	chr1:56791400-56792000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:56791400-56792000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:56791400-56792200	Enhancers	HSMM	muscle
33	chr1:56791400-56792200	Enhancers	HUVEC	blood vessel
34	chr1:56791400-56792400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:56791600-56791800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:56791600-56792000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:56791600-56792000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:56791600-56792400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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