Variant report

Variant	rs7000484
Chromosome Location	chr8:49046362-49046363
allele	G/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:10)

rs_ID	r²[population]
rs10103627	0.90[ASN][1000 genomes]
rs10216585	0.94[ASN][1000 genomes]
rs4130805	0.90[ASN][1000 genomes]
rs4433176	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4633086	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6993968	0.91[ASN][1000 genomes]
rs71548453	0.87[ASN][1000 genomes]
rs7816616	0.87[ASN][1000 genomes]
rs7820720	0.94[ASN][1000 genomes]
rs9298548	0.93[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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	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	chr8:49043600-49049000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:49043800-49049600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49044600-49051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:49044800-49048400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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