Variant report

Variant	rs447611
Chromosome Location	chr8:90820587-90820588
allele	A/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:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11989430	0.83[ASN][1000 genomes]
rs13280951	0.89[ASN][1000 genomes]
rs2338882	0.89[ASN][1000 genomes]
rs28144	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28405481	0.83[ASN][1000 genomes]
rs28461337	0.89[ASN][1000 genomes]
rs2975240	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs368812	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs369771	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs370282	0.92[EUR][1000 genomes]
rs376110	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs394108	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs39515	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs39516	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39767	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs39768	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39769	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs402434	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40381	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40382	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40457	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40458	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40547	0.92[EUR][1000 genomes]
rs40636	0.92[EUR][1000 genomes]
rs40637	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40638	0.92[EUR][1000 genomes]
rs40639	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs421411	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs422559	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42345	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42346	0.92[EUR][1000 genomes]
rs43135	0.90[EUR][1000 genomes]
rs43226	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs43227	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs43228	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs441548	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs445172	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs445675	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs452694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453266	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs454561	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62530862	0.88[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs447611	RIPK2	Cis_1M	lymphoblastoid	RTeQTL
rs447611	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:9 , 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	chr8:90817600-90821200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:90817800-90821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:90818000-90824600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:90818600-90824800	Weak transcription	A549	lung
9	chr8:90820400-90820600	Enhancers	Osteobl	bone

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