Variant report

Variant	nsv947182
Chromosome Location	chr1:47841662-47845531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47834279..47838384-chr1:47842508..47846874,4	K562	blood:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CMPK1	hsa-miR-590-3p	chr1:47843911-47843932
2	CMPK1	hsa-miR-374b-5p	chr1:47843133-47843151
3	CMPK1	hsa-miR-16-5p	chr1:47842468-47842474
4	CMPK1	hsa-miR-10a-5p	chr1:47843703-47843724
5	CMPK1	hsa-miR-590-3p	chr1:47842650-47842672

Extended variants
information (count: 118 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374351949	chr1:47841725-47841726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574291420	chr1:47841809-47841810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541665896	chr1:47841810-47841811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181631940	chr1:47841840-47841841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186095610	chr1:47841966-47841967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545451399	chr1:47842037-47842038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569203589	chr1:47842044-47842045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77709292	chr1:47842058-47842059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373567676	chr1:47842073-47842074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531267282	chr1:47842128-47842129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553725088	chr1:47842131-47842132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576716558	chr1:47842137-47842138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377078148	chr1:47842144-47842145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568107903	chr1:47842154-47842155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529499795	chr1:47842160-47842161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548038946	chr1:47842170-47842171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190908398	chr1:47842178-47842179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35057132	chr1:47842180-47842181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377149799	chr1:47842214-47842215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540152525	chr1:47842221-47842222	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557826191	chr1:47842234-47842235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570037932	chr1:47842238-47842239	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537099457	chr1:47842272-47842273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555822832	chr1:47842278-47842279	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12081190	chr1:47842285-47842286	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368383970	chr1:47842325-47842326	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181963933	chr1:47842356-47842357	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375504021	chr1:47842368-47842369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545701723	chr1:47842404-47842405	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202217123	chr1:47842408-47842409	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3125648	chr1:47842431-47842432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185243869	chr1:47842447-47842448	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531332693	chr1:47842494-47842495	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543090281	chr1:47842501-47842502	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191223317	chr1:47842529-47842530	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529020626	chr1:47842558-47842559	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547975641	chr1:47842578-47842579	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566287088	chr1:47842607-47842608	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113534701	chr1:47842619-47842620	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2820981	chr1:47842666-47842667	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112300032	chr1:47842669-47842670	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
42	rs200994093	chr1:47842694-47842695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117696989	chr1:47842695-47842696	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575938684	chr1:47842727-47842728	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11554567	chr1:47842729-47842730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537439324	chr1:47842730-47842731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1044457	chr1:47842777-47842778	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs182966385	chr1:47842813-47842814	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534804633	chr1:47842863-47842864	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530211460	chr1:47842872-47842873	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
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
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
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
Chronic myeloid leukemia	21384125	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
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:47801000-47850800	Weak transcription	NHEK	skin
3	chr1:47814800-47850600	Weak transcription	Aorta	Aorta
4	chr1:47823000-47846400	Weak transcription	Colonic Mucosa	Colon
5	chr1:47824000-47851000	Weak transcription	Stomach Mucosa	stomach
6	chr1:47824000-47853800	Weak transcription	Psoas Muscle	Psoas
7	chr1:47827800-47854800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:47832200-47854200	Weak transcription	Esophagus	oesophagus
9	chr1:47833200-47852000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:47833400-47844600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:47833600-47854200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:47833600-47854200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:47833800-47842800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr1:47834000-47847400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:47834000-47847600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:47834000-47847600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:47834000-47849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:47834000-47849200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:47834000-47849200	Strong transcription	Dnd41	blood
20	chr1:47834000-47849400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:47834200-47841800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:47834200-47841800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:47834200-47841800	Strong transcription	Fetal Intestine Large	intestine
24	chr1:47834200-47842400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:47834200-47842400	Strong transcription	K562	blood
26	chr1:47834200-47842800	Strong transcription	Liver	Liver
27	chr1:47834200-47842800	Strong transcription	Placenta	Placenta
28	chr1:47834200-47843000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:47834200-47843000	Strong transcription	Primary T cells from cord blood	blood
30	chr1:47834200-47843000	Strong transcription	Colon Smooth Muscle	Colon
31	chr1:47834200-47843000	Strong transcription	Fetal Thymus	thymus
32	chr1:47834200-47843200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:47834200-47843200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:47834200-47843200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:47834200-47843200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:47834200-47843200	Strong transcription	Osteobl	bone
37	chr1:47834200-47843800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:47834200-47847000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:47834200-47847600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:47834200-47847600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:47834200-47848000	Strong transcription	HSMM	muscle
42	chr1:47834200-47849200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:47834200-47849400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:47834200-47849400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:47834200-47849400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:47834200-47850200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:47835000-47844600	Weak transcription	Lung	lung
48	chr1:47835000-47846600	Weak transcription	Gastric	stomach
49	chr1:47835200-47844600	Weak transcription	Spleen	Spleen
50	chr1:47835200-47844800	Weak transcription	H1 Cell Line	embryonic stem cell

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