Variant report

Variant	rs13280951
Chromosome Location	chr8:90821974-90821975
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	chr8:90819524..90821279-chr8:90821317..90823717,2	MCF-7	breast:
2	chr8:90818033..90820526-chr8:90821604..90823395,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10094579	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11989430	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12155807	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13278954	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16900888	0.97[EUR][1000 genomes]
rs16901016	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2189025	0.89[EUR][1000 genomes]
rs2338882	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28144	0.90[ASN][1000 genomes]
rs28405481	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28461337	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528187	0.84[EUR][1000 genomes]
rs28766093	0.81[ASN][1000 genomes]
rs2975240	0.90[ASN][1000 genomes]
rs34525502	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34642426	0.81[ASN][1000 genomes]
rs34699769	0.96[EUR][1000 genomes]
rs34970073	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35183880	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs368812	0.84[ASN][1000 genomes]
rs369771	0.85[ASN][1000 genomes]
rs376110	0.85[ASN][1000 genomes]
rs394108	0.86[ASN][1000 genomes]
rs39515	0.86[ASN][1000 genomes]
rs39516	0.84[ASN][1000 genomes]
rs39768	0.84[ASN][1000 genomes]
rs39769	0.84[ASN][1000 genomes]
rs402434	0.89[ASN][1000 genomes]
rs40381	0.83[ASN][1000 genomes]
rs40457	0.90[ASN][1000 genomes]
rs40458	0.80[ASN][1000 genomes]
rs40637	0.90[ASN][1000 genomes]
rs40639	0.84[ASN][1000 genomes]
rs421411	0.90[ASN][1000 genomes]
rs422559	0.90[ASN][1000 genomes]
rs42345	0.86[ASN][1000 genomes]
rs43226	0.90[ASN][1000 genomes]
rs43227	0.90[ASN][1000 genomes]
rs43228	0.85[ASN][1000 genomes]
rs445172	0.87[ASN][1000 genomes]
rs445675	0.90[ASN][1000 genomes]
rs447611	0.89[ASN][1000 genomes]
rs452694	0.89[ASN][1000 genomes]
rs453266	0.85[ASN][1000 genomes]
rs454561	0.85[ASN][1000 genomes]
rs62530862	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530908	0.96[EUR][1000 genomes]
rs6984540	0.97[EUR][1000 genomes];0.81[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13280951	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90814000-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:90814600-90823400	Weak transcription	NHDF-Ad	bronchial
4	chr8:90817400-90825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:90818000-90824600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:90818600-90824800	Weak transcription	A549	lung
7	chr8:90821200-90822800	Weak transcription	Osteobl	bone

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