Variant report

Variant	rs4493879
Chromosome Location	chr8:130093098-130093099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130080974..130082806-chr8:130092451..130094799,2	K562	blood:
2	chr8:130088040..130090042-chr8:130091591..130093443,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10098250	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956458	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11774875	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11777036	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11777951	0.84[AMR][1000 genomes]
rs11990860	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11996876	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11997291	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12334809	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1372441	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1372444	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1372452	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1441988	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1441989	0.81[EUR][1000 genomes]
rs2197111	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34709271	0.87[AMR][1000 genomes]
rs3957251	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4354273	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4443626	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733534	0.81[EUR][1000 genomes]
rs55708957	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55801260	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55802114	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55836025	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55865674	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55870212	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55925307	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56000240	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56065964	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56099035	0.93[AMR][1000 genomes]
rs56100663	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56308035	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56396127	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56853677	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57967261	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525662	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525664	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525667	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525668	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525669	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525670	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525671	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525713	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525715	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525716	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62525721	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62525724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525744	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470678	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470679	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7001446	0.86[EUR][1000 genomes]
rs7018275	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72728800	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72730206	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72730211	0.93[AMR][1000 genomes]
rs72730213	0.84[AMR][1000 genomes]
rs72730215	0.84[AMR][1000 genomes]
rs7817443	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7827793	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7833975	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7835514	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7835741	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7839409	0.81[EUR][1000 genomes]
rs7844268	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs920621	0.89[EUR][1000 genomes];0.82[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:8 , 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	chr8:130089400-130096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:130089800-130094800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:130090600-130099800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:130091000-130096200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:130091400-130096200	Weak transcription	Fetal Lung	lung
7	chr8:130091600-130093200	Weak transcription	Fetal Thymus	thymus
8	chr8:130091800-130094800	Genic enhancers	Dnd41	blood

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