Variant report

Variant	rs12122410
Chromosome Location	chr1:222211511-222211512
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12117316	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12120736	0.86[AMR][1000 genomes]
rs12126368	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12129517	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12136244	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12137305	0.92[EUR][1000 genomes]
rs12137800	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12140406	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1339869	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17011253	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153352	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2185327	0.86[EUR][1000 genomes]
rs2378497	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2378498	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2790762	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2800859	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2800860	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2970199	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121626	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5013041	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55756813	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56054113	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56236427	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61823896	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61823902	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61823903	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61823905	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs996854	0.86[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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222195000-222216000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222204200-222216600	Weak transcription	Aorta	Aorta
3	chr1:222205800-222212600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:222207000-222217200	Enhancers	Fetal Heart	heart
5	chr1:222208400-222212800	Weak transcription	Right Ventricle	heart
6	chr1:222208600-222213200	Weak transcription	Psoas Muscle	Psoas
7	chr1:222209000-222212800	Weak transcription	Fetal Brain Male	brain
8	chr1:222210400-222211800	Enhancers	HSMMtube	muscle
9	chr1:222210400-222212800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:222210800-222211600	Weak transcription	Left Ventricle	heart
11	chr1:222211000-222211800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:222211200-222212800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:222211200-222213400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:222211200-222215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:222211200-222216600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:222211400-222212400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:222211400-222214000	Enhancers	Right Atrium	heart
18	chr1:222211400-222215200	Weak transcription	Osteobl	bone
19	chr1:222211400-222216800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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