Variant report

Variant	rs12130330
Chromosome Location	chr1:94968345-94968346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10157506	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1034363	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1041282	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11165149	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11576665	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11581292	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582033	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1158254	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11585880	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12120731	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12127355	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12131298	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12143221	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12143512	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16946	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17410399	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1983859	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050648	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2147794	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2296382	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794470	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4148042	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148050	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4148052	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148056	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4148060	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4536006	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4847303	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55801886	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56353982	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61772847	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61772851	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61772854	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61772857	0.88[ASN][1000 genomes]
rs698950	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7555399	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs841692	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs841695	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs927728	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs966176	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94913800-94974200	Weak transcription	Psoas Muscle	Psoas
2	chr1:94914800-94985800	Weak transcription	NHLF	lung
3	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
4	chr1:94916000-94969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:94916000-94970000	Weak transcription	Ovary	ovary
6	chr1:94916000-94970000	Weak transcription	Spleen	Spleen
7	chr1:94916000-94973800	Weak transcription	Pancreas	Pancrea
8	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
9	chr1:94916200-94968400	Weak transcription	Gastric	stomach
10	chr1:94916200-94971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:94916200-94974200	Weak transcription	Lung	lung
12	chr1:94917800-94971800	Weak transcription	NHEK	skin
13	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
15	chr1:94924800-94968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:94929400-94980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:94929600-94985400	Weak transcription	Fetal Brain Female	brain
18	chr1:94930800-94974000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:94937600-94971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
21	chr1:94946400-94993000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:94952800-94987800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:94952800-94993000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:94952800-94993400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:94953000-94970200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:94953200-94971600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:94956600-94987200	Weak transcription	Fetal Heart	heart
29	chr1:94957200-94968400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:94957600-94970600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:94958000-94985400	Weak transcription	Fetal Brain Male	brain
32	chr1:94958200-94971200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:94958400-94968600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:94958400-94969800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:94958400-94969800	Weak transcription	Brain Anterior Caudate	brain
36	chr1:94958400-94972800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:94958400-94982600	Weak transcription	HMEC	breast
38	chr1:94958400-94992200	Weak transcription	NHDF-Ad	bronchial
39	chr1:94958400-94993200	Weak transcription	NH-A	brain
40	chr1:94958600-94969000	Weak transcription	A549	lung
41	chr1:94958600-94976800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:94958600-94987600	Weak transcription	Primary B cells from cord blood	blood
43	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:94960600-94973800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:94962000-94988000	Weak transcription	HUVEC	blood vessel
46	chr1:94963000-94968800	Strong transcription	Fetal Thymus	thymus
47	chr1:94963200-94968800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:94963200-94972200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:94963200-94972400	Strong transcription	Liver	Liver
50	chr1:94963600-94968600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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