Variant report

Variant	nsv1013351
Chromosome Location	chr1:67039730-67055937
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	chr1:67048310..67050858-chr1:67148438..67150245,2	K562	blood:
2	chr1:67047745..67048246-chr6:116563756..116564256,2	NB4	blood:

Extended variants
information (count: 608 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4655625	chr1:67039730-67039731	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4655626	chr1:67039795-67039796	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115236292	chr1:67039801-67039802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370207609	chr1:67039842-67039843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191097232	chr1:67039843-67039844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554420386	chr1:67039853-67039854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549094897	chr1:67039861-67039862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182461659	chr1:67039862-67039863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368392855	chr1:67039886-67039887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531517143	chr1:67039962-67039963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551630481	chr1:67040006-67040007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1159632	chr1:67040050-67040051	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79780383	chr1:67040055-67040056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527551818	chr1:67040065-67040066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547673697	chr1:67040066-67040067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146464525	chr1:67040107-67040108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78576240	chr1:67040138-67040139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370627845	chr1:67040141-67040142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556226017	chr1:67040201-67040202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377222500	chr1:67040230-67040231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1159851	chr1:67040243-67040244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548663365	chr1:67040328-67040329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189165538	chr1:67040354-67040355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560589462	chr1:67040366-67040367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1159852	chr1:67040380-67040381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576356333	chr1:67040463-67040464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76959543	chr1:67040488-67040489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2218498	chr1:67040489-67040490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10889631	chr1:67040493-67040494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542677878	chr1:67040509-67040510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146367451	chr1:67040518-67040519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374822814	chr1:67040520-67040521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538841095	chr1:67040521-67040522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190965432	chr1:67040523-67040524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371725127	chr1:67040525-67040526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12741427	chr1:67040589-67040590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10889632	chr1:67040590-67040591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183175442	chr1:67040643-67040644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527527938	chr1:67040695-67040696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199738082	chr1:67040732-67040733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534339308	chr1:67040765-67040766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555891574	chr1:67040775-67040776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140971992	chr1:67040814-67040815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567586977	chr1:67040820-67040821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530018135	chr1:67040821-67040822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549738695	chr1:67040867-67040868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1373909	chr1:67040875-67040876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs144799983	chr1:67040891-67040892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1373910	chr1:67040926-67040927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566135528	chr1:67040967-67040968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67029200-67042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:67029400-67040800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:67029400-67041400	Weak transcription	Left Ventricle	heart
4	chr1:67029600-67041400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:67029600-67041600	Weak transcription	Aorta	Aorta
6	chr1:67029800-67040200	Weak transcription	Fetal Heart	heart
7	chr1:67032000-67041400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:67037000-67040800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:67037000-67041600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:67038000-67041400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:67038000-67042400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:67038000-67042400	Weak transcription	HSMM	muscle
13	chr1:67038000-67043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:67038200-67041400	Weak transcription	NH-A	brain
15	chr1:67038200-67042000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:67038200-67042400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:67038200-67042400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:67038200-67042600	Weak transcription	Osteobl	bone
19	chr1:67038400-67039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:67038400-67040600	Weak transcription	NHLF	lung
21	chr1:67038400-67040800	Weak transcription	NHDF-Ad	bronchial
22	chr1:67038400-67040800	Weak transcription	NHEK	skin
23	chr1:67038400-67041000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:67038400-67041400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:67038400-67041400	Weak transcription	HMEC	breast
26	chr1:67038600-67040800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:67039200-67040200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:67039200-67040400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:67039600-67040600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:67039800-67042600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:67040200-67040400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:67040200-67040600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:67040200-67042000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:67040200-67044200	Enhancers	Fetal Heart	heart
35	chr1:67040400-67042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:67040400-67042000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:67040600-67040800	Enhancers	Fetal Stomach	stomach
38	chr1:67040600-67041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:67040600-67043200	Enhancers	Fetal Lung	lung
40	chr1:67040600-67044200	Enhancers	NHLF	lung
41	chr1:67040800-67041600	Enhancers	Brain Anterior Caudate	brain
42	chr1:67040800-67041600	Weak transcription	Fetal Stomach	stomach
43	chr1:67040800-67042800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:67040800-67043200	Enhancers	NHEK	skin
45	chr1:67040800-67044000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:67040800-67044800	Enhancers	NHDF-Ad	bronchial
47	chr1:67041000-67042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:67041000-67043400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:67041400-67041600	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:67041400-67041600	Enhancers	Stomach Smooth Muscle	stomach

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