Variant report

Variant	rs28718348
Chromosome Location	chr4:74160669-74160670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10002903	0.81[ASN][1000 genomes]
rs10022167	0.83[ASN][1000 genomes]
rs10022463	0.84[ASN][1000 genomes]
rs12503222	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12510644	0.87[ASN][1000 genomes]
rs12649712	0.83[EUR][1000 genomes]
rs13104065	0.85[ASN][1000 genomes]
rs13114289	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13122972	0.81[ASN][1000 genomes]
rs13135376	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13136437	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13138260	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1475934	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16849341	0.83[ASN][1000 genomes]
rs2051510	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2051512	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236766	0.82[ASN][1000 genomes]
rs2236767	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28585480	0.81[ASN][1000 genomes]
rs28796001	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28885986	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28891076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35545060	0.80[ASN][1000 genomes]
rs3756066	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3775485	0.84[ASN][1000 genomes]
rs3775486	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4076	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4270557	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4345146	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4429703	0.81[ASN][1000 genomes]
rs4513532	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4530599	0.81[ASN][1000 genomes]
rs4560374	0.83[ASN][1000 genomes]
rs4575963	0.81[ASN][1000 genomes]
rs4621399	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4694164	0.85[ASN][1000 genomes]
rs4694598	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4694600	0.86[ASN][1000 genomes]
rs4694608	0.81[ASN][1000 genomes]
rs4694613	0.81[ASN][1000 genomes]
rs58395249	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6446931	0.81[ASN][1000 genomes]
rs6810745	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6818116	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6820167	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6829085	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6832260	0.83[ASN][1000 genomes]
rs6832557	0.84[ASN][1000 genomes]
rs6853164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs714825	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7434765	0.81[ASN][1000 genomes]
rs7682895	0.86[ASN][1000 genomes]
rs7683385	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7688274	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs962004	0.82[ASN][1000 genomes]
rs962005	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9784408	0.81[ASN][1000 genomes]
rs9784582	0.81[ASN][1000 genomes]
rs9995176	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9996318	0.81[ASN][1000 genomes]
rs9999209	0.82[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	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74158800-74160800	Weak transcription	Aorta	Aorta
2	chr4:74159000-74164800	Weak transcription	Liver	Liver
3	chr4:74159000-74170200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:74159000-74174400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:74159600-74162600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:74160000-74161400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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