Variant report

Variant	rs4858882
Chromosome Location	chr3:48132431-48132432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48131776-48132521	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48130893..48133841-chr3:48154652..48156153,2	K562	blood:
2	chr3:48129047..48133145-chr3:48133622..48137667,6	K562	blood:
3	chr3:48131661..48133215-chr3:48198051..48201016,2	K562	blood:
4	chr3:48129713..48132114-chr3:48132198..48135515,4	MCF-7	breast:
5	chr3:48129047..48133145-chr3:48133826..48138274,6	K562	blood:
6	chr3:48132094..48133993-chr3:48142496..48145069,2	K562	blood:

No data

Variant related genes	Relation type
MAP4	TF binding region
ENSG00000265078	Chromatin interaction
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1013431	0.85[EUR][1000 genomes]
rs11130152	0.83[EUR][1000 genomes]
rs11130154	0.86[EUR][1000 genomes]
rs11130155	0.81[EUR][1000 genomes]
rs11710866	0.81[EUR][1000 genomes]
rs11711129	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11720151	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11924107	0.93[EUR][1000 genomes]
rs12493348	0.81[EUR][1000 genomes]
rs13074973	0.86[EUR][1000 genomes]
rs13075457	0.83[EUR][1000 genomes]
rs13075795	0.84[EUR][1000 genomes]
rs13081463	0.96[EUR][1000 genomes]
rs13085054	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13089844	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1530646	0.86[EUR][1000 genomes]
rs1550914	0.86[EUR][1000 genomes]
rs2034963	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2053767	0.86[EUR][1000 genomes]
rs2121754	0.86[EUR][1000 genomes]
rs2166770	0.86[EUR][1000 genomes]
rs2166772	0.86[EUR][1000 genomes]
rs28637561	0.86[EUR][1000 genomes]
rs35314534	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35689209	0.90[EUR][1000 genomes]
rs4293721	0.86[EUR][1000 genomes]
rs4296617	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4392441	0.87[EUR][1000 genomes]
rs4599334	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4858876	0.86[EUR][1000 genomes]
rs4858880	0.88[EUR][1000 genomes]
rs4858881	0.87[EUR][1000 genomes]
rs4858887	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5012971	0.87[EUR][1000 genomes]
rs56067795	0.91[EUR][1000 genomes]
rs6442090	0.86[EUR][1000 genomes]
rs6442091	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6442094	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6442096	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6442099	0.90[EUR][1000 genomes]
rs6442101	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6766641	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6768318	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6770467	0.86[EUR][1000 genomes]
rs6770477	0.86[EUR][1000 genomes]
rs6773208	0.84[EUR][1000 genomes]
rs6777081	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6791834	0.90[EUR][1000 genomes]
rs6793477	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6803741	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6804520	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6806820	0.85[EUR][1000 genomes]
rs7374516	0.86[EUR][1000 genomes]
rs7426976	0.86[EUR][1000 genomes]
rs7427418	0.86[EUR][1000 genomes]
rs7430879	0.86[EUR][1000 genomes]
rs7430913	0.86[EUR][1000 genomes]
rs7431567	0.82[AMR][1000 genomes]
rs7618163	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7620736	0.90[EUR][1000 genomes]
rs7627645	0.87[EUR][1000 genomes]
rs7630685	0.88[ASN][1000 genomes]
rs7642590	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7649981	0.86[EUR][1000 genomes]
rs9811277	0.86[EUR][1000 genomes]
rs9814961	0.86[EUR][1000 genomes]
rs9825114	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9828959	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9846062	0.85[EUR][1000 genomes]
rs9854454	0.86[EUR][1000 genomes]
rs9860485	0.85[EUR][1000 genomes]
rs9862913	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4858882	MRPS18AP1	cis	Thyroid	GTEx
rs4858882	ZNF589	cis	Artery Tibial	GTEx
rs4858882	MRPS18AP1	cis	Artery Tibial	GTEx
rs4858882	MRPS18AP1	cis	lung	GTEx
rs4858882	MRPS18AP1	cis	Nerve Tibial	GTEx
rs4858882	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs4858882	NME6	cis	Esophagus Muscularis	GTEx
rs4858882	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs4858882	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs4858882	ZNF589	cis	Nerve Tibial	GTEx
rs4858882	ZNF589	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48131800-48133600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:48132000-48133000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:48132000-48133800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:48132000-48133800	Weak transcription	K562	blood
5	chr3:48132000-48142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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