Variant report

Variant	rs13243593
Chromosome Location	chr7:40858578-40858579
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1006376	0.91[ASN][1000 genomes]
rs1013574	0.82[ASN][1000 genomes]
rs10225209	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10225445	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10231324	0.93[EUR][1000 genomes]
rs10231545	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10233069	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235458	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10243080	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10252053	0.97[EUR][1000 genomes]
rs10276001	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10276629	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10279715	0.84[ASN][1000 genomes]
rs1029620	0.92[ASN][1000 genomes]
rs1029621	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10951639	0.92[ASN][1000 genomes]
rs1115714	0.96[EUR][1000 genomes]
rs1115715	0.96[EUR][1000 genomes]
rs1203569	0.90[ASN][1000 genomes]
rs12537964	0.82[ASN][1000 genomes]
rs12666544	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12701835	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13237870	0.97[EUR][1000 genomes]
rs13240894	0.93[EUR][1000 genomes]
rs13246232	0.91[ASN][1000 genomes]
rs17530165	0.89[EUR][1000 genomes]
rs17530213	0.90[EUR][1000 genomes]
rs17621030	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17688285	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17688414	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1921746	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1921747	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1921748	0.97[EUR][1000 genomes]
rs2108375	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108376	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329877	0.87[ASN][1000 genomes]
rs34565813	0.82[ASN][1000 genomes]
rs34689844	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35146091	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35570092	0.97[EUR][1000 genomes]
rs35712272	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35995194	0.93[ASN][1000 genomes]
rs3815265	0.97[EUR][1000 genomes]
rs4050963	0.93[EUR][1000 genomes]
rs4460274	0.89[EUR][1000 genomes]
rs4723979	0.82[ASN][1000 genomes]
rs62449401	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6462989	0.91[ASN][1000 genomes]
rs68023334	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6949092	0.82[ASN][1000 genomes]
rs723838	0.90[ASN][1000 genomes]
rs7801192	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7804009	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7807596	0.91[EUR][1000 genomes]
rs7808211	0.93[EUR][1000 genomes]
rs886831	0.93[AFR][1000 genomes];0.97[EUR][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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40855200-40864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:40855600-40862400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:40855600-40866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40855800-40866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:40856000-40862200	Weak transcription	Osteobl	bone
6	chr7:40856400-40865200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:40857000-40863600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:40858000-40862400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:40858000-40864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:40858200-40862200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:40858200-40862200	Weak transcription	HMEC	breast
12	chr7:40858200-40863400	Weak transcription	NHEK	skin
13	chr7:40858200-40863800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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