Variant report

Variant	rs12089482
Chromosome Location	chr1:185597494-185597495
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10489706	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073471	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10798023	0.89[ASN][1000 genomes]
rs10911759	0.90[ASN][1000 genomes]
rs10911762	0.84[ASN][1000 genomes]
rs10911764	0.84[ASN][1000 genomes]
rs10911766	0.84[ASN][1000 genomes]
rs10911769	0.91[ASN][1000 genomes]
rs10911770	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11484606	0.85[ASN][1000 genomes]
rs12062862	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap]
rs12071422	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12073090	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12075447	0.84[ASN][1000 genomes]
rs12077602	0.96[ASN][1000 genomes]
rs12081447	0.84[ASN][1000 genomes]
rs12096560	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096674	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12407672	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12565364	0.91[ASN][1000 genomes]
rs12567356	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12567373	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407273	0.96[ASN][1000 genomes]
rs1830593	0.91[ASN][1000 genomes]
rs2224512	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565664	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650683	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4650684	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4651276	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4651278	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4651279	0.90[ASN][1000 genomes]
rs4651280	0.90[ASN][1000 genomes]
rs58210626	0.84[ASN][1000 genomes]
rs6661437	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665534	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696493	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73062745	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73062749	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73062758	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73062759	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73062761	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7416006	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7535227	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs960690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3350575	chr1:185580344-185614213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185588400-185601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185596200-185597600	Enhancers	Fetal Brain Male	brain
3	chr1:185596400-185601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:185596600-185601600	Weak transcription	Placenta	Placenta
5	chr1:185597000-185597600	Enhancers	Fetal Lung	lung
6	chr1:185597000-185597800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:185597000-185598000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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