Variant report

Variant	rs12501238
Chromosome Location	chr4:80178557-80178558
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10015645	1.00[JPT][hapmap]
rs1471729	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4246717	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4975165	1.00[JPT][hapmap]
rs6816121	1.00[JPT][hapmap]
rs6822677	0.87[AFR][1000 genomes]
rs7681755	0.91[EUR][1000 genomes]
rs982992	0.86[AMR][1000 genomes]
rs9991698	1.00[JPT][hapmap]

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	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:80165400-80194000	Weak transcription	Aorta	Aorta
2	chr4:80171400-80179200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:80177200-80179400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:80177400-80180000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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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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