Variant report

Variant	nsv526839
Chromosome Location	chr1:70459886-70475794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70455516..70457103-chr1:70466419..70468009,2	K562	blood:
2	chr1:70459004..70461758-chr1:70463276..70465044,2	K562	blood:
3	chr1:70459004..70461758-chr1:70463276..70465044,2	K562	blood:

Extended variants
information (count: 545 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386632224	chr1:70459886-70459887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12034575	chr1:70459887-70459888	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549440721	chr1:70459934-70459935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114051638	chr1:70459972-70459973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143650078	chr1:70459986-70459987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539544333	chr1:70459988-70459989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189168665	chr1:70459998-70459999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557849023	chr1:70460078-70460079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571006484	chr1:70460092-70460093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533680065	chr1:70460093-70460094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116778165	chr1:70460098-70460099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567374605	chr1:70460122-70460123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536465744	chr1:70460124-70460125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12024870	chr1:70460129-70460130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576298117	chr1:70460140-70460141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544573135	chr1:70460142-70460143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115249650	chr1:70460184-70460185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578138629	chr1:70460187-70460188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375578941	chr1:70460210-70460211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114167372	chr1:70460215-70460216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201571161	chr1:70460226-70460227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12035355	chr1:70460238-70460239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181489989	chr1:70460257-70460258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72676879	chr1:70460304-70460305	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373883230	chr1:70460347-70460348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532078463	chr1:70460372-70460373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187436336	chr1:70460373-70460374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375027688	chr1:70460394-70460395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527361758	chr1:70460403-70460404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547058752	chr1:70460424-70460425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567367017	chr1:70460426-70460427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536021750	chr1:70460436-70460437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12024978	chr1:70460454-70460455	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371124977	chr1:70460462-70460463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192106479	chr1:70460482-70460483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367923717	chr1:70460515-70460516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538976408	chr1:70460555-70460556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76065426	chr1:70460560-70460561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150941319	chr1:70460562-70460563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558168557	chr1:70460592-70460593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578092243	chr1:70460610-70460611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183961993	chr1:70460675-70460676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185197097	chr1:70460727-70460728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574082742	chr1:70460759-70460760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542849046	chr1:70460803-70460804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12062605	chr1:70460835-70460836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531866715	chr1:70460840-70460841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189567840	chr1:70460867-70460868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35781710	chr1:70460885-70460886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545901731	chr1:70460969-70460970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Papillary thyroid carcinoma	21436994	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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70450800-70481200	Weak transcription	Fetal Brain Female	brain
2	chr1:70457200-70460400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:70457800-70460000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:70457800-70464600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:70458400-70460800	Enhancers	Fetal Lung	lung
6	chr1:70458600-70461000	Enhancers	HUVEC	blood vessel
7	chr1:70458800-70460400	Enhancers	Fetal Kidney	kidney
8	chr1:70458800-70460400	Enhancers	Hela-S3	cervix
9	chr1:70459200-70460400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:70459400-70460400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:70459600-70460200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:70459600-70460200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:70459600-70460400	Enhancers	HSMM	muscle
14	chr1:70459600-70460400	Enhancers	NHDF-Ad	bronchial
15	chr1:70459600-70460600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:70459800-70460200	Enhancers	HSMMtube	muscle
17	chr1:70459800-70460200	Enhancers	NHEK	skin
18	chr1:70459800-70460400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:70459800-70460400	Enhancers	Osteobl	bone
20	chr1:70460000-70460600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:70463800-70464600	Weak transcription	Brain Angular Gyrus	brain
22	chr1:70464600-70464800	Enhancers	Brain Angular Gyrus	brain
23	chr1:70464600-70465000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:70464800-70509000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:70468000-70469200	Weak transcription	Fetal Lung	lung
26	chr1:70468600-70469600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:70468600-70470000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:70468800-70469600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:70468800-70469600	Enhancers	NHEK	skin
30	chr1:70468800-70469800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:70469000-70469400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:70469000-70469600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:70469000-70469800	Enhancers	HUVEC	blood vessel
34	chr1:70469000-70470400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:70469200-70470400	Enhancers	Fetal Lung	lung
36	chr1:70469600-70470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:70470000-70470400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:70470200-70470600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:70470400-70473400	Weak transcription	Fetal Lung	lung
40	chr1:70472400-70473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:70472600-70473000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:70472600-70473200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:70473000-70473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:70473400-70473600	Enhancers	Fetal Lung	lung
45	chr1:70473600-70475400	Weak transcription	Fetal Lung	lung
46	chr1:70473800-70474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:70474200-70474400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:70474400-70474800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:70475000-70475800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:70475400-70475600	Enhancers	Fetal Lung	lung

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