Variant report

Variant	rs40382
Chromosome Location	chr8:90833908-90833909
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: 97 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1003843	0.84[AMR][1000 genomes]
rs10095743	0.84[AMR][1000 genomes]
rs10112852	0.84[AMR][1000 genomes]
rs13252917	0.84[AMR][1000 genomes]
rs13259882	0.84[AMR][1000 genomes]
rs218905	0.80[AMR][1000 genomes]
rs218907	0.83[AMR][1000 genomes]
rs218908	0.83[AMR][1000 genomes]
rs218909	0.83[AMR][1000 genomes]
rs218913	0.83[AMR][1000 genomes]
rs218914	0.83[AMR][1000 genomes]
rs218925	0.85[AMR][1000 genomes]
rs218929	0.85[AMR][1000 genomes]
rs218932	0.83[AMR][1000 genomes]
rs218934	0.83[AMR][1000 genomes]
rs218936	0.86[AMR][1000 genomes]
rs2644021	0.84[AMR][1000 genomes]
rs2644033	0.85[AMR][1000 genomes]
rs2735870	0.83[AMR][1000 genomes]
rs2735871	0.85[AMR][1000 genomes]
rs2735873	0.85[AMR][1000 genomes]
rs2735878	0.84[AMR][1000 genomes]
rs2735882	0.84[AMR][1000 genomes]
rs28144	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2975240	0.88[EUR][1000 genomes]
rs368812	0.94[EUR][1000 genomes]
rs369771	0.94[EUR][1000 genomes]
rs370282	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs376110	0.93[EUR][1000 genomes]
rs383592	0.82[EUR][1000 genomes]
rs385524	0.85[AMR][1000 genomes]
rs394108	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39500	0.87[AMR][1000 genomes]
rs39503	0.87[AMR][1000 genomes]
rs39504	0.87[AMR][1000 genomes]
rs39505	0.87[AMR][1000 genomes]
rs39506	0.87[AMR][1000 genomes]
rs39509	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs39515	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39516	0.94[EUR][1000 genomes]
rs39761	0.87[AMR][1000 genomes]
rs39767	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs39768	0.91[EUR][1000 genomes]
rs39769	0.94[EUR][1000 genomes]
rs400411	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs402434	0.90[EUR][1000 genomes]
rs40247	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs40250	0.83[ASN][1000 genomes]
rs402886	0.87[AMR][1000 genomes]
rs40381	0.82[EUR][1000 genomes]
rs40452	0.87[AMR][1000 genomes]
rs40453	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs40457	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40458	0.81[EUR][1000 genomes]
rs40459	0.83[ASN][1000 genomes]
rs40545	0.87[AMR][1000 genomes]
rs40547	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs405734	0.85[AMR][1000 genomes]
rs40636	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40637	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40638	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40639	0.89[EUR][1000 genomes]
rs411279	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs416324	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs419754	0.85[AMR][1000 genomes]
rs419890	0.83[ASN][1000 genomes]
rs421411	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42186	0.83[ASN][1000 genomes]
rs422559	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42344	0.82[ASN][1000 genomes]
rs42345	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs42346	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs42481	0.85[ASN][1000 genomes]
rs43134	0.87[AMR][1000 genomes]
rs43135	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs43225	0.87[AMR][1000 genomes]
rs43226	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs43227	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs43228	0.91[EUR][1000 genomes]
rs435600	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs445172	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs445675	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs447611	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs447618	0.87[AMR][1000 genomes]
rs452694	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs453266	0.94[EUR][1000 genomes]
rs454561	0.94[EUR][1000 genomes]
rs465	0.83[AMR][1000 genomes]
rs51331	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6470366	0.84[AMR][1000 genomes]
rs6992985	0.84[AMR][1000 genomes]
rs6993133	0.84[AMR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs40382	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs40382	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs40382	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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