Variant report

Variant	rs12043338
Chromosome Location	chr1:169685463-169685464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169685122..169687361-chr1:169776503..169779359,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489171	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs10919223	1.00[AMR][1000 genomes]
rs10919229	0.93[CHB][hapmap]
rs12024211	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12025244	0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12025442	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12025581	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12025648	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12029611	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12029669	0.80[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes]
rs12031046	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs12037112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12038016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044932	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12046689	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs12047464	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs12047936	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs12239757	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs16828193	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs16862668	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16862714	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs2179172	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2272913	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs3766136	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs3766149	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs3766153	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs3917443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58583023	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58910844	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72637234	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72637235	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72637237	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72637238	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9659149	0.93[CHB][hapmap];0.86[JPT][hapmap]

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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169681200-169692000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:169681400-169691200	Weak transcription	Liver	Liver
3	chr1:169684800-169686400	Enhancers	Dnd41	blood

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