Variant report

Variant	rs11974333
Chromosome Location	chr5:119914760-119914761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1014283	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10452935	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10452936	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1055302	0.86[ASN][1000 genomes]
rs11975741	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12538707	0.96[ASN][1000 genomes]
rs12539936	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12539997	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672720	0.96[ASN][1000 genomes]
rs12673662	0.93[ASN][1000 genomes]
rs1468615	0.93[EUR][1000 genomes]
rs1473152	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1473154	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1558375	0.93[EUR][1000 genomes]
rs1558376	0.93[EUR][1000 genomes]
rs17149644	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17209662	0.96[ASN][1000 genomes]
rs17209837	0.96[ASN][1000 genomes]
rs17275514	0.96[ASN][1000 genomes]
rs2071645	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072384	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2109505	0.93[EUR][1000 genomes]
rs2270187	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2888611	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3842	0.83[ASN][1000 genomes]
rs4148805	0.93[ASN][1000 genomes]
rs4148807	0.93[ASN][1000 genomes]
rs4148808	0.93[ASN][1000 genomes]
rs4148810	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148811	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148813	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148816	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4148818	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4148820	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4148821	0.91[EUR][1000 genomes]
rs4148824	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4148826	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45478299	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45479991	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45493392	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45496691	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45537841	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45553044	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45560338	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55747905	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60040620	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60541816	0.96[ASN][1000 genomes]
rs60624924	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60916103	0.96[ASN][1000 genomes]
rs66510518	0.96[ASN][1000 genomes]
rs6971521	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6971745	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73198345	0.96[ASN][1000 genomes]
rs7782186	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7789645	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7793196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802555	0.96[ASN][1000 genomes]
rs7802783	0.96[ASN][1000 genomes]
rs998671	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv882787	chr5:119874306-119925692	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11974333	ABCB1///ABCB4	Cis_1M	lymphoblastoid	RTeQTL
rs11974333	ABCB4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119904800-119931200	Weak transcription	Osteobl	bone
2	chr5:119905000-119925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:119905600-119934600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:119907800-119934800	Weak transcription	HSMM	muscle
5	chr5:119908000-119919400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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