Variant report

Variant	rs7315817
Chromosome Location	chr12:45442109-45442110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45423833..45426482-chr12:45441036..45442735,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10492285	1.00[CEU][hapmap]
rs10880698	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10880699	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10880727	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880728	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880731	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182713	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11182714	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs11182722	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11182725	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs11182729	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11182732	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11182770	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182771	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182772	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182785	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182789	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182790	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182791	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182792	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182793	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182796	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182812	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11534985	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12578220	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs12578314	1.00[CEU][hapmap]
rs12579006	1.00[EUR][1000 genomes]
rs12580562	1.00[EUR][1000 genomes]
rs12581554	1.00[CEU][hapmap]
rs12581653	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12581852	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581880	1.00[EUR][1000 genomes]
rs12582602	1.00[EUR][1000 genomes]
rs12829945	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17095247	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap]
rs17095441	1.00[CEU][hapmap]
rs2658976	0.81[CHB][hapmap]
rs2703049	1.00[CEU][hapmap]
rs2703052	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2710418	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2710424	0.81[CHB][hapmap]
rs3803172	1.00[EUR][1000 genomes]
rs3803174	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803175	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447760	0.87[CHB][hapmap]
rs57726055	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59646766	0.81[ASN][1000 genomes]
rs7300104	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7316250	0.91[YRI][hapmap]
rs7968450	1.00[CEU][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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45437200-45443000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:45441400-45445400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:45441600-45442400	Active TSS	Brain Hippocampus Middle	brain
4	chr12:45442000-45442400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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