Variant report

Variant	rs2705123
Chromosome Location	chr12:48878792-48878793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:48878702-48878818	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48877425..48880282-chr12:48884726..48886278,2	MCF-7	breast:

Variant related genes	Relation type
C12orf54	TF binding region
RPS10P20	TF binding region

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

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

rs_ID	r²[population]
rs10783256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875804	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs11168547	0.82[CEU][hapmap]
rs11168576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168628	0.80[ASN][1000 genomes]
rs11168629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11168630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11168631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11168632	0.80[ASN][1000 genomes]
rs11168633	0.80[ASN][1000 genomes]
rs11168634	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11168635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11168636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs11168638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11168639	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs11168640	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12229098	0.80[ASN][1000 genomes]
rs12230091	0.80[ASN][1000 genomes]
rs12230448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12230471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12231229	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12298871	0.86[ASN][1000 genomes]
rs12300672	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12303419	0.86[ASN][1000 genomes]
rs12321745	0.86[ASN][1000 genomes]
rs17122979	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17237094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17237198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17834022	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2232570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2251773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705133	1.00[CEU][hapmap]
rs2705141	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2705158	0.84[EUR][1000 genomes]
rs2705159	0.84[EUR][1000 genomes]
rs2705161	1.00[CEU][hapmap]
rs2731071	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2731073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2731101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489787	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580673	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580674	0.96[AMR][1000 genomes];0.97[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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv975415	chr12:48873981-48881500	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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