Variant report

Variant	rs12469393
Chromosome Location	chr2:141653700-141653701
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10170474	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10191493	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12469352	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1366802	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1429347	0.86[EUR][1000 genomes]
rs1469481	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4426471	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141648800-141654800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:141649200-141661800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:141650200-141654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:141653200-141654200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:141653200-141656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:141653600-141654800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:141653600-141662800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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