Variant report

Variant	rs7312089
Chromosome Location	chr12:60254899-60254900
allele	G/T
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]
rs10431559	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10877346	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10877347	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10877351	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11173188	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11173196	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11536188	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4337073	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4540857	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4758813	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4758847	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6581280	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7136857	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7309233	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7311027	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7311327	0.95[AMR][1000 genomes];0.90[EUR][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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2751107	chr12:60252000-60353533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60242200-60295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60254200-60255400	Weak transcription	Liver	Liver

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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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