Variant report

Variant	rs12470391
Chromosome Location	chr2:125368515-125368516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10165603	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10194805	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10195187	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11123053	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11123056	0.86[CEU][hapmap]
rs11676952	0.86[CEU][hapmap]
rs11681388	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12466900	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs12468779	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap]
rs12477053	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12990799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504022	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1847432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1910528	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2047874	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4848252	0.83[CEU][hapmap]
rs6541962	0.80[CEU][hapmap]
rs6750396	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558706	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7584599	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7591540	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv528674	chr2:125346337-125383522	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
3	nsv834359	chr2:125367872-125536022	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125367000-125369400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:125367200-125369200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:125367200-125369600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:125367200-125369800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:125367200-125370200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:125367200-125370200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:125367200-125370200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:125367400-125369600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:125367600-125368600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:125367600-125369000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:125367600-125369600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:125368000-125368800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:125368000-125369000	Weak transcription	Brain Germinal Matrix	brain

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