Variant report

Variant	rs1327450
Chromosome Location	chr1:71284554-71284555
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11209697	0.85[ASN][1000 genomes]
rs11209704	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12022025	0.83[ASN][1000 genomes]
rs12409292	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2257598	0.87[ASN][1000 genomes]
rs2257934	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2258875	0.84[ASN][1000 genomes]
rs34289107	0.83[ASN][1000 genomes]
rs4402080	0.81[AMR][1000 genomes]
rs4523478	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998550	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71283400-71286200	Enhancers	Fetal Heart	heart
2	chr1:71283600-71284600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:71283600-71285200	Enhancers	NHDF-Ad	bronchial
4	chr1:71283600-71286200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:71283800-71285000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:71283800-71285200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:71283800-71285200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:71284400-71284600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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