Variant report

Variant	rs1074428
Chromosome Location	chr12:42387191-42387192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11611399	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12812537	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12812574	0.89[EUR][1000 genomes]
rs12819341	0.92[EUR][1000 genomes]
rs12823639	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12824122	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1492364	0.82[EUR][1000 genomes]
rs1732340	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34064806	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34619605	0.87[EUR][1000 genomes]
rs4264206	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4332578	0.87[EUR][1000 genomes]
rs58891308	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68185827	0.84[AMR][1000 genomes];0.93[EUR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:42385800-42388400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:42386200-42387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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