Variant report

Variant	rs40458
Chromosome Location	chr8:90833884-90833885
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	chr8:90783067..90785641-chr8:90833540..90835924,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13280951	0.80[ASN][1000 genomes]
rs2338882	0.80[ASN][1000 genomes]
rs28144	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28461337	0.80[ASN][1000 genomes]
rs2975240	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs368812	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs369771	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs376110	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394108	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39515	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39516	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39768	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39769	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs402434	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40382	0.81[EUR][1000 genomes]
rs40457	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40637	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40639	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs421411	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs422559	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs42345	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs43135	0.81[EUR][1000 genomes]
rs43226	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs43227	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs43228	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs441548	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs445172	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs445675	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs447611	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs452694	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs453266	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs454561	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530862	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv972243	chr8:90823430-90834708	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs40458	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs40458	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90824000-90836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:90828000-90845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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