Variant report

Variant	rs12034288
Chromosome Location	chr1:222132744-222132745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11118897	0.80[EUR][1000 genomes]
rs11118898	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11118899	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11118900	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11118901	0.91[EUR][1000 genomes]
rs12035688	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12035786	0.81[EUR][1000 genomes]
rs12122784	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12122940	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12132356	0.90[CEU][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs12136822	0.90[EUR][1000 genomes]
rs12144436	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12743521	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12755244	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17494423	0.89[EUR][1000 genomes]
rs35494468	0.81[EUR][1000 genomes]
rs3748707	0.82[EUR][1000 genomes]
rs4636470	0.85[EUR][1000 genomes]
rs61392684	0.86[EUR][1000 genomes]
rs61826479	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6690767	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6700163	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7544501	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7544814	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	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222126200-222133400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222128200-222133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:222130800-222133800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:222131600-222133000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:222132000-222133600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:222132000-222133600	Weak transcription	Dnd41	blood
7	chr1:222132000-222133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:222132000-222133800	Weak transcription	HSMM	muscle
9	chr1:222132000-222134800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:222132000-222134800	Weak transcription	NHEK	skin
11	chr1:222132000-222135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:222132000-222135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:222132200-222134200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:222132200-222135200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:222132400-222133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:222132400-222133800	Weak transcription	Hela-S3	cervix
17	chr1:222132400-222134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:222132600-222133000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:222132600-222133600	Weak transcription	K562	blood
20	chr1:222132600-222133800	Weak transcription	HMEC	breast

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