Variant report

Variant	nsv1003016
Chromosome Location	chr1:67043120-67067119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67064848..67066944-chr1:67071232..67073081,2	K562	blood:
2	chr1:67048310..67050858-chr1:67148438..67150245,2	K562	blood:
3	chr1:67047745..67048246-chr6:116563756..116564256,2	NB4	blood:

Extended variants
information (count: 938 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:938 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs920987	chr1:67043120-67043121	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191087785	chr1:67043130-67043131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539002460	chr1:67043197-67043198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562199390	chr1:67043219-67043220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531105753	chr1:67043258-67043259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181026274	chr1:67043315-67043316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2084089	chr1:67043368-67043369	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143166795	chr1:67043377-67043378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6143251	chr1:67043440-67043441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534098939	chr1:67043467-67043468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371546430	chr1:67043469-67043470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565670644	chr1:67043488-67043489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147513322	chr1:67043508-67043509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554225140	chr1:67043514-67043515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567841825	chr1:67043537-67043538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536769710	chr1:67043632-67043633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554257518	chr1:67043643-67043644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575763722	chr1:67043660-67043661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556702684	chr1:67043661-67043662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576973506	chr1:67043730-67043731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546030719	chr1:67043761-67043762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553033627	chr1:67043815-67043816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1445572	chr1:67043839-67043840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs67151790	chr1:67043928-67043929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201823607	chr1:67043937-67043938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1838652	chr1:67043985-67043986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375035510	chr1:67044007-67044008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562087413	chr1:67044055-67044056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185916281	chr1:67044164-67044165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544730377	chr1:67044180-67044181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191213864	chr1:67044185-67044186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540978910	chr1:67044210-67044211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559555229	chr1:67044213-67044214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568173154	chr1:67044222-67044223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552886288	chr1:67044257-67044258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138295933	chr1:67044319-67044320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548370934	chr1:67044331-67044332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567083674	chr1:67044357-67044358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569850457	chr1:67044396-67044397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183372833	chr1:67044417-67044418	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547752849	chr1:67044432-67044433	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2166306	chr1:67044436-67044437	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12567556	chr1:67044440-67044441	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs113422786	chr1:67044464-67044465	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545190945	chr1:67044490-67044491	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377294914	chr1:67044515-67044516	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570622345	chr1:67044516-67044517	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377602385	chr1:67044520-67044521	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553210763	chr1:67044524-67044525	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573026822	chr1:67044526-67044527	Enhancers Genic 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:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67038000-67043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:67040200-67044200	Enhancers	Fetal Heart	heart
3	chr1:67040600-67043200	Enhancers	Fetal Lung	lung
4	chr1:67040600-67044200	Enhancers	NHLF	lung
5	chr1:67040800-67043200	Enhancers	NHEK	skin
6	chr1:67040800-67044000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:67040800-67044800	Enhancers	NHDF-Ad	bronchial
8	chr1:67041000-67043400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:67041400-67043200	Enhancers	Brain Angular Gyrus	brain
10	chr1:67041400-67043200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:67041400-67043600	Enhancers	Brain Hippocampus Middle	brain
12	chr1:67041400-67044200	Enhancers	NH-A	brain
13	chr1:67041400-67045600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:67041600-67043200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:67041600-67043600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:67041600-67043600	Enhancers	Brain Substantia Nigra	brain
17	chr1:67041600-67062400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:67042000-67044000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:67042000-67045800	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:67042000-67046200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:67042000-67046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:67042200-67045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:67042400-67043200	Enhancers	Brain Anterior Caudate	brain
24	chr1:67042400-67043600	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:67042400-67044200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:67042600-67043400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:67042600-67043400	Weak transcription	Aorta	Aorta
28	chr1:67042600-67043600	Enhancers	Fetal Brain Male	brain
29	chr1:67042600-67044800	Enhancers	Osteobl	bone
30	chr1:67042800-67044400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:67042800-67044400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:67043000-67046600	Weak transcription	Small Intestine	intestine
33	chr1:67043200-67043600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:67043200-67043600	Weak transcription	NHEK	skin
35	chr1:67043200-67047600	Weak transcription	Fetal Lung	lung
36	chr1:67043200-67052000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:67043200-67056800	Weak transcription	Brain Anterior Caudate	brain
38	chr1:67043200-67064400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:67043400-67044000	Enhancers	Aorta	Aorta
40	chr1:67043400-67045000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:67043400-67045000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:67043400-67056200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:67043600-67044000	Enhancers	NHEK	skin
44	chr1:67043600-67044200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:67043600-67044400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:67043600-67050600	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:67043600-67066600	Weak transcription	Fetal Brain Male	brain
48	chr1:67044000-67044400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:67044000-67057200	Weak transcription	Aorta	Aorta
50	chr1:67044200-67064000	Weak transcription	NH-A	brain

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