Variant report

Variant	rs1430774
Chromosome Location	chr2:67943960-67943961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10191401	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10203890	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10865363	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13403823	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4671197	0.82[ASN][1000 genomes]
rs4671841	0.86[ASN][1000 genomes]
rs56324151	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58450143	0.88[ASN][1000 genomes]
rs724568	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs737358	0.95[ASN][1000 genomes]
rs7564895	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67939800-67944000	Weak transcription	NHLF	lung
2	chr2:67940000-67945400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:67943600-67944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:67943600-67944800	Enhancers	Muscle Satellite Cultured Cells	--

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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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