Variant report

Variant	rs72712576
Chromosome Location	chr8:130418822-130418823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130409293..130412110-chr8:130418175..130420281,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087235	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10087734	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10090670	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10094748	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10104020	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108893	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109055	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112452	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956474	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956476	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11506138	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990493	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11997641	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12335056	0.91[ASN][1000 genomes]
rs28463195	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28599610	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28839778	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28840106	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72712593	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72714212	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72714222	0.91[ASN][1000 genomes]
rs72714223	0.91[ASN][1000 genomes]
rs72714224	0.91[ASN][1000 genomes]
rs9297787	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297788	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643250	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9656976	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv968553	chr8:130416069-130423976	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130416800-130426600	Strong transcription	K562	blood
3	chr8:130418800-130424000	Weak transcription	Dnd41	blood

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