Variant report

Variant	rs7572478
Chromosome Location	chr2:40015323-40015324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1003448	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10174172	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208971	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10865156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12712657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12712658	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1861257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2110668	1.00[AMR][1000 genomes]
rs2110669	1.00[AMR][1000 genomes]
rs2192709	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2373697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4670965	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57881063	1.00[AMR][1000 genomes]
rs60034070	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61265671	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61688062	1.00[AMR][1000 genomes]
rs6544250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707373	1.00[AMR][1000 genomes]
rs6708625	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924963	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73925000	1.00[AMR][1000 genomes]
rs7601124	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv2696	chr2:39988381-40033288	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40014800-40015400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:40015200-40015600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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