Variant report

Variant	rs39767
Chromosome Location	chr8:90819998-90819999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90818033..90820526-chr8:90821604..90823395,2	K562	blood:
2	chr8:90819524..90821279-chr8:90821317..90823717,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs218925	0.80[AMR][1000 genomes]
rs218929	0.80[AMR][1000 genomes]
rs218936	0.81[AMR][1000 genomes]
rs2644033	0.80[AMR][1000 genomes]
rs2735871	0.80[AMR][1000 genomes]
rs2735873	0.80[AMR][1000 genomes]
rs28144	0.92[EUR][1000 genomes]
rs2975240	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs368812	0.91[EUR][1000 genomes]
rs369771	0.91[EUR][1000 genomes]
rs370282	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs376110	0.92[EUR][1000 genomes]
rs383592	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs385524	0.80[AMR][1000 genomes]
rs394108	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39500	0.82[AMR][1000 genomes]
rs39503	0.82[AMR][1000 genomes]
rs39504	0.82[AMR][1000 genomes]
rs39505	0.82[AMR][1000 genomes]
rs39506	0.82[AMR][1000 genomes]
rs39509	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs39515	0.92[EUR][1000 genomes]
rs39516	0.91[EUR][1000 genomes]
rs39761	0.82[AMR][1000 genomes]
rs39768	0.90[EUR][1000 genomes]
rs39769	0.91[EUR][1000 genomes]
rs400411	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs402434	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40247	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs402886	0.82[AMR][1000 genomes]
rs40381	0.85[EUR][1000 genomes]
rs40382	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs40452	0.82[AMR][1000 genomes]
rs40453	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40457	0.92[EUR][1000 genomes]
rs40545	0.82[AMR][1000 genomes]
rs40547	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs405734	0.80[AMR][1000 genomes]
rs40636	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40637	0.92[EUR][1000 genomes]
rs40638	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40639	0.88[EUR][1000 genomes]
rs411279	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs416324	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs419754	0.80[AMR][1000 genomes]
rs421411	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs422559	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42344	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42345	0.91[EUR][1000 genomes]
rs42346	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs43134	0.82[AMR][1000 genomes]
rs43135	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs43225	0.82[AMR][1000 genomes]
rs43226	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs43227	0.92[EUR][1000 genomes]
rs43228	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs435600	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs441548	0.83[EUR][1000 genomes]
rs445172	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs445675	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs447611	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs447618	0.82[AMR][1000 genomes]
rs452694	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs453266	0.91[EUR][1000 genomes]
rs454561	0.91[EUR][1000 genomes]
rs51331	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	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
rs39767	RIPK2	cis	cerebellum	SCAN
rs39767	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 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	chr8:90818000-90820400	Weak transcription	Osteobl	bone
8	chr8:90818000-90824600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:90818600-90824800	Weak transcription	A549	lung
10	chr8:90819000-90820000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links