Variant report

Variant	rs7313948
Chromosome Location	chr12:59444048-59444049
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1444092	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1444094	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1444095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1444100	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1546517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1838311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1850720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1877258	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1878870	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2120526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2197334	1.00[AMR][1000 genomes]
rs4617627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4760258	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954165	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs977818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv975501	chr12:59441514-59445888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59441000-59450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:59442000-59446400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:59442000-59446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:59442000-59446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:59442000-59446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:59442000-59446800	Weak transcription	HMEC	breast
7	chr12:59442000-59446800	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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