Variant report

Variant	rs7314569
Chromosome Location	chr12:48816981-48816982
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10875798	0.92[JPT][hapmap]
rs11168541	0.92[JPT][hapmap]
rs11168577	0.83[AMR][1000 genomes]
rs11168586	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12372687	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426877	0.82[JPT][hapmap]
rs12822431	0.86[JPT][hapmap]
rs2261608	0.86[JPT][hapmap]
rs2291483	0.92[JPT][hapmap]
rs35338015	0.83[AMR][1000 genomes]
rs3752820	0.92[JPT][hapmap]
rs56354789	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580671	0.83[AMR][1000 genomes]
rs7133497	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7134019	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7301176	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7955785	0.80[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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	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
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48815600-48817400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:48815600-48817800	Enhancers	Fetal Heart	heart
3	chr12:48816000-48817600	Enhancers	Hela-S3	cervix
4	chr12:48816400-48817600	Flanking Active TSS	HUVEC	blood vessel
5	chr12:48816600-48817400	Enhancers	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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