Variant report

Variant	rs12124223
Chromosome Location	chr1:67030472-67030473
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10493412	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10789209	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889630	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889631	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889632	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208921	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11208933	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11208935	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1159632	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12072369	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12077192	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12081718	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12137531	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12141816	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1325262	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1338188	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1338189	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1536112	0.81[ASN][1000 genomes]
rs17129256	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17436311	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1813888	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998716	0.81[ASN][1000 genomes]
rs2147776	0.81[ASN][1000 genomes]
rs41309179	0.93[ASN][1000 genomes]
rs4147266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55830106	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56283052	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56374735	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6687096	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689755	0.81[ASN][1000 genomes]
rs6699200	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669456	0.82[EUR][1000 genomes]
rs72670253	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515818	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7530439	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7548488	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs975878	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
2	chr1:67027200-67032000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:67027400-67031400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:67028600-67030600	Enhancers	Adipose Nuclei	Adipose
5	chr1:67028600-67030800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:67028600-67031000	Enhancers	HMEC	breast
7	chr1:67028800-67030600	Enhancers	Colon Smooth Muscle	Colon
8	chr1:67028800-67030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:67028800-67031400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:67029200-67030800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:67029200-67030800	Enhancers	HepG2	liver
12	chr1:67029200-67033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:67029200-67042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:67029400-67030800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:67029400-67040800	Weak transcription	Brain Anterior Caudate	brain
16	chr1:67029400-67041400	Weak transcription	Left Ventricle	heart
17	chr1:67029600-67030600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:67029600-67030800	Enhancers	HSMM	muscle
19	chr1:67029600-67041400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:67029600-67041600	Weak transcription	Aorta	Aorta
21	chr1:67029800-67031000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:67029800-67032000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:67029800-67040200	Weak transcription	Fetal Heart	heart
24	chr1:67030000-67030800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:67030000-67031000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:67030000-67031000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:67030000-67031000	Enhancers	NHLF	lung
28	chr1:67030000-67031200	Enhancers	Osteobl	bone
29	chr1:67030000-67031400	Enhancers	Hela-S3	cervix
30	chr1:67030000-67031400	Enhancers	HUVEC	blood vessel
31	chr1:67030000-67036400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:67030200-67030600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:67030400-67030600	Enhancers	Rectal Smooth Muscle	rectum
34	chr1:67030400-67030600	Flanking Active TSS	NH-A	brain
35	chr1:67030400-67030600	Flanking Active TSS	NHEK	skin
36	chr1:67030400-67030800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:67030400-67030800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:67030400-67031600	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links