Variant report

Variant	rs43135
Chromosome Location	chr8:90835950-90835951
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBN-4	chr8:90835776-90836030	NONHSAT127628

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1003843	0.83[AMR][1000 genomes]
rs10095743	0.83[AMR][1000 genomes]
rs10112852	0.83[AMR][1000 genomes]
rs13252917	0.83[AMR][1000 genomes]
rs13259882	0.83[AMR][1000 genomes]
rs13274635	0.85[CEU][hapmap]
rs218907	0.82[AMR][1000 genomes]
rs218908	0.82[AMR][1000 genomes]
rs218909	0.82[AMR][1000 genomes]
rs218913	0.82[AMR][1000 genomes]
rs218914	0.82[AMR][1000 genomes]
rs218925	0.84[AMR][1000 genomes]
rs218929	0.84[AMR][1000 genomes]
rs218932	0.82[AMR][1000 genomes]
rs218934	0.82[AMR][1000 genomes]
rs218936	0.85[AMR][1000 genomes]
rs218938	0.88[CEU][hapmap]
rs2644021	0.83[AMR][1000 genomes]
rs2644033	0.84[AMR][1000 genomes]
rs2735870	0.82[AMR][1000 genomes]
rs2735871	0.84[AMR][1000 genomes]
rs2735873	0.84[AMR][1000 genomes]
rs2735878	0.83[AMR][1000 genomes]
rs2735882	0.83[AMR][1000 genomes]
rs28144	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2975240	0.88[EUR][1000 genomes]
rs367640	0.86[JPT][hapmap]
rs368812	0.94[EUR][1000 genomes]
rs369771	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs370282	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs376110	0.93[EUR][1000 genomes]
rs376962	0.91[JPT][hapmap]
rs377897	0.91[JPT][hapmap]
rs379015	0.82[AFR][1000 genomes]
rs380425	0.86[JPT][hapmap]
rs381456	0.91[JPT][hapmap]
rs383592	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs385524	0.84[AMR][1000 genomes]
rs388866	0.90[JPT][hapmap]
rs390536	0.90[JPT][hapmap]
rs394108	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39500	0.86[AMR][1000 genomes]
rs39503	0.86[AMR][1000 genomes]
rs39504	0.86[AMR][1000 genomes]
rs39505	0.86[AMR][1000 genomes]
rs39506	0.86[AMR][1000 genomes]
rs39509	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs39515	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39516	0.94[EUR][1000 genomes]
rs397540	0.85[CEU][hapmap]
rs39761	0.86[AMR][1000 genomes]
rs39763	0.85[CEU][hapmap]
rs39766	0.88[CEU][hapmap]
rs39767	0.87[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	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs402434	0.90[EUR][1000 genomes]
rs40247	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs40250	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs402886	0.86[AMR][1000 genomes]
rs40379	0.85[CEU][hapmap]
rs40380	0.84[CEU][hapmap]
rs40381	0.82[EUR][1000 genomes]
rs40382	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40452	0.86[AMR][1000 genomes]
rs40453	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs40454	0.84[CEU][hapmap]
rs40457	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40458	0.81[EUR][1000 genomes]
rs40459	0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs40545	0.86[AMR][1000 genomes]
rs40547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs405734	0.84[AMR][1000 genomes]
rs40635	0.85[CEU][hapmap]
rs40636	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40637	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40638	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40639	0.89[EUR][1000 genomes]
rs410663	0.90[JPT][hapmap]
rs411279	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs411310	0.85[CEU][hapmap]
rs416324	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs418634	0.86[JPT][hapmap]
rs419754	0.84[AMR][1000 genomes]
rs419890	0.83[ASN][1000 genomes]
rs421411	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42186	0.83[ASN][1000 genomes]
rs422559	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42343	0.85[CEU][hapmap]
rs42344	0.82[ASN][1000 genomes]
rs42345	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs42346	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs42480	0.88[CEU][hapmap]
rs42481	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs425140	0.85[JPT][hapmap]
rs427854	0.86[JPT][hapmap]
rs428484	0.88[CEU][hapmap]
rs43134	0.86[AMR][1000 genomes]
rs43225	0.86[AMR][1000 genomes]
rs43226	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs43227	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs43228	0.91[EUR][1000 genomes]
rs432457	0.90[JPT][hapmap]
rs434264	0.85[CEU][hapmap]
rs435600	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs445172	0.90[EUR][1000 genomes]
rs445675	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs447611	0.90[EUR][1000 genomes]
rs447618	0.86[AMR][1000 genomes]
rs447989	0.86[JPT][hapmap]
rs450332	0.84[CEU][hapmap]
rs452694	0.90[EUR][1000 genomes]
rs453266	0.94[EUR][1000 genomes]
rs454561	0.94[EUR][1000 genomes]
rs465	0.82[AMR][1000 genomes]
rs51331	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6470366	0.83[AMR][1000 genomes]
rs6992985	0.83[AMR][1000 genomes]
rs6993133	0.83[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	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
5	nsv968495	chr8:90835687-90842298	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs43135	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs43135	RIPK2	Cis_1M	lymphoblastoid	RTeQTL
rs43135	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 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
3	chr8:90835800-90836000	Bivalent Enhancer	HepG2	liver

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