Variant report

Variant	rs12125383
Chromosome Location	chr1:222168434-222168435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222163800..222166412-chr1:222168403..222170793,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10218478	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118902	0.80[EUR][1000 genomes]
rs11118926	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12024555	0.85[EUR][1000 genomes]
rs12025565	0.89[EUR][1000 genomes]
rs12029332	0.91[EUR][1000 genomes]
rs12032653	0.91[EUR][1000 genomes]
rs12032715	0.85[EUR][1000 genomes]
rs12033415	0.96[EUR][1000 genomes]
rs12121134	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12123928	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124556	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125368	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12126297	1.00[ASN][1000 genomes]
rs12129860	0.91[EUR][1000 genomes]
rs12135286	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12137323	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140498	0.80[EUR][1000 genomes]
rs12140529	0.80[EUR][1000 genomes]
rs12140604	0.96[EUR][1000 genomes]
rs12731064	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12739936	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13375176	0.80[EUR][1000 genomes]
rs17011141	0.81[EUR][1000 genomes]
rs17011146	0.81[EUR][1000 genomes]
rs17011182	0.96[EUR][1000 genomes]
rs17011200	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17442058	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442323	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17495159	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35212520	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35718308	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35805428	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56170536	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66732677	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6687758	0.97[EUR][1000 genomes]
rs6691195	0.97[EUR][1000 genomes]
rs6695584	0.97[EUR][1000 genomes]
rs72740077	0.82[EUR][1000 genomes]
rs7520544	0.82[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12125383	RP11-400N13.2	cis	lung	GTEx
rs12125383	RP11-815M8.1	cis	lung	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222159600-222169400	Enhancers	HMEC	breast
2	chr1:222163600-222169800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:222165000-222171600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:222165800-222172000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:222166600-222169400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:222166600-222171800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:222166800-222169200	Enhancers	Osteobl	bone
8	chr1:222167000-222169200	Enhancers	HSMM	muscle
9	chr1:222167000-222169200	Enhancers	NHLF	lung
10	chr1:222167000-222169400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:222167000-222172000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:222167200-222168800	Enhancers	GM12878-XiMat	blood
13	chr1:222167200-222169000	Enhancers	HSMMtube	muscle
14	chr1:222167200-222169200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:222167200-222169200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:222167200-222169200	Enhancers	NH-A	brain
17	chr1:222167200-222169400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:222167200-222169400	Enhancers	Brain Anterior Caudate	brain
19	chr1:222167200-222169400	Enhancers	NHDF-Ad	bronchial
20	chr1:222167400-222168600	Enhancers	Brain Hippocampus Middle	brain
21	chr1:222167400-222169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:222167400-222169200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:222167400-222169200	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:222167600-222168600	Enhancers	Brain Angular Gyrus	brain
25	chr1:222168200-222168600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:222168200-222168600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:222168200-222168600	Weak transcription	Brain Substantia Nigra	brain
28	chr1:222168200-222168600	Weak transcription	NHEK	skin
29	chr1:222168400-222168600	Enhancers	Fetal Lung	lung
30	chr1:222168400-222168800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:222168400-222169200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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