Variant report

Variant	rs4448233
Chromosome Location	chr8:130108515-130108516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10093150	0.89[ASN][1000 genomes]
rs10956463	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956464	0.89[ASN][1000 genomes]
rs10956465	0.83[ASN][1000 genomes]
rs12541644	0.84[AFR][1000 genomes]
rs12546355	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13263573	0.85[AMR][1000 genomes]
rs13270479	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28459683	0.87[AMR][1000 genomes]
rs28540589	0.85[AMR][1000 genomes]
rs28628837	0.85[AMR][1000 genomes]
rs35721910	0.83[AFR][1000 genomes]
rs4289775	0.83[ASN][1000 genomes]
rs4310170	0.82[ASN][1000 genomes]
rs4524751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4524752	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470695	0.84[AMR][1000 genomes]
rs6470696	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470698	0.82[ASN][1000 genomes]
rs6981888	0.82[ASN][1000 genomes]
rs6982195	0.82[ASN][1000 genomes]
rs6987260	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6989059	0.82[AMR][1000 genomes]
rs6989504	0.85[AMR][1000 genomes]
rs6996505	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7001827	0.82[ASN][1000 genomes]
rs7004434	0.85[AMR][1000 genomes]
rs7007293	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7011330	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72609876	0.83[ASN][1000 genomes]
rs7815753	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7821655	0.83[ASN][1000 genomes]
rs7824972	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7831436	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7839556	0.80[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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130094800-130112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:130107000-130109600	Weak transcription	Fetal Thymus	thymus
4	chr8:130107600-130109000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:130107600-130109000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:130108400-130109400	Strong transcription	Dnd41	blood

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