Variant report

Variant	rs72730206
Chromosome Location	chr8:130112053-130112054
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11774875	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11777036	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11777951	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11990860	0.93[AMR][1000 genomes]
rs11996876	0.80[AMR][1000 genomes]
rs11997291	0.93[AMR][1000 genomes]
rs1372452	0.80[AMR][1000 genomes]
rs34709271	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4354273	0.93[AMR][1000 genomes]
rs4443626	0.86[AMR][1000 genomes]
rs4493879	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55708957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801260	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55802114	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55836025	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55870212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55925307	0.80[AMR][1000 genomes]
rs56000240	0.93[AMR][1000 genomes]
rs56065964	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56099035	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56100663	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56308035	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56853677	0.80[AMR][1000 genomes]
rs62525667	0.80[AMR][1000 genomes]
rs62525668	0.80[AMR][1000 genomes]
rs62525669	0.80[AMR][1000 genomes]
rs62525670	0.80[AMR][1000 genomes]
rs62525671	0.86[AMR][1000 genomes]
rs62525713	0.93[AMR][1000 genomes]
rs62525715	0.93[AMR][1000 genomes]
rs62525716	0.93[AMR][1000 genomes]
rs62525721	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62525724	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62525744	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525745	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72728800	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72730211	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72730213	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72730215	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7817443	0.80[AMR][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	chr8:130110400-130115200	ZNF genes & repeats	Dnd41	blood
3	chr8:130110800-130113200	Weak transcription	Fetal Thymus	thymus
4	chr8:130110800-130116000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:130110800-130116000	Weak transcription	Pancreas	Pancrea
6	chr8:130110800-130116000	Weak transcription	Thymus	Thymus

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