Variant report

Variant	rs10459081
Chromosome Location	chr12:26168991-26168992
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10431215	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771249	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10771250	0.88[CEU][hapmap];0.80[CHB][hapmap]
rs10771255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842641	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10842642	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10842645	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10842647	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10842648	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10842651	0.93[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10842655	0.88[ASN][1000 genomes]
rs10842658	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs11048363	0.93[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11048364	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11048367	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11048370	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048374	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12227480	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12369462	0.91[ASN][1000 genomes]
rs1513124	0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs1874351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1994995	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2251618	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2643927	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2643930	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2643933	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729631	0.85[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs2729634	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2729635	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs61247260	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487522	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7132820	0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs7136804	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7137379	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7138742	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7139241	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7295585	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7299421	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7315752	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956992	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963754	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7964657	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7969486	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7971906	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7979763	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10459081	FKRP	trans	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:26163600-26170400	Weak transcription	Pancreas	Pancrea
5	chr12:26164200-26170400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:26164400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:26164600-26170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:26164600-26170400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:26164600-26171600	Weak transcription	NH-A	brain
10	chr12:26164800-26169000	Weak transcription	Fetal Lung	lung
11	chr12:26164800-26169200	Weak transcription	NHLF	lung
12	chr12:26164800-26170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:26164800-26170400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:26164800-26170400	Weak transcription	Aorta	Aorta
15	chr12:26164800-26170400	Weak transcription	Left Ventricle	heart
16	chr12:26164800-26170400	Weak transcription	Lung	lung
17	chr12:26164800-26170400	Weak transcription	Ovary	ovary
18	chr12:26164800-26170400	Weak transcription	Psoas Muscle	Psoas
19	chr12:26164800-26170400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:26164800-26170400	Weak transcription	Hela-S3	cervix
21	chr12:26164800-26170400	Weak transcription	HSMM	muscle
22	chr12:26164800-26170400	Weak transcription	NHEK	skin
23	chr12:26164800-26170600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:26164800-26173200	Weak transcription	HMEC	breast
25	chr12:26165000-26169200	Weak transcription	HUVEC	blood vessel
26	chr12:26165000-26169400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:26165000-26171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:26165200-26171400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:26166200-26170400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:26167200-26170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:26167200-26170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:26167200-26170400	Weak transcription	Brain Substantia Nigra	brain
33	chr12:26167200-26170400	Weak transcription	Gastric	stomach
34	chr12:26167200-26170400	Weak transcription	Right Atrium	heart
35	chr12:26167200-26174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:26167400-26169000	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:26167400-26169200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:26167400-26169400	Weak transcription	Osteobl	bone
39	chr12:26167400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:26167400-26170400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:26167400-26170400	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:26167400-26170400	Weak transcription	Fetal Heart	heart
43	chr12:26167400-26170400	Weak transcription	Right Ventricle	heart
44	chr12:26167400-26170400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:26167400-26170400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:26167400-26171600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:26168200-26169200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:26168200-26169400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:26168200-26169400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links