Variant report

Variant	rs2465973
Chromosome Location	chr15:56584060-56584061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12900678	0.82[EUR][1000 genomes]
rs1402177	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17819438	0.81[EUR][1000 genomes]
rs2114183	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2249090	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2460646	0.84[EUR][1000 genomes]
rs2460650	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2682012	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2682019	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2682021	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2682023	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2682051	0.84[AMR][1000 genomes]
rs2682053	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2682059	0.84[EUR][1000 genomes]
rs2713899	0.80[AFR][1000 genomes]
rs2713931	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2713933	0.83[AMR][1000 genomes]
rs2713936	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2718901	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2718908	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2718934	0.84[EUR][1000 genomes]
rs2725854	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725862	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2947020	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2947021	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35497167	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35863560	0.81[EUR][1000 genomes]
rs3985758	0.81[EUR][1000 genomes]
rs62022122	0.81[EUR][1000 genomes]
rs6493856	0.81[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	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv977854	chr15:56583544-56599264	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2465973	RFX7	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56582000-56584600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:56582400-56584800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:56584000-56585600	Enhancers	Placenta	Placenta

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