Variant report

Variant	rs4683748
Chromosome Location	chr3:142863119-142863120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142854742..142857547-chr3:142861968..142864216,2	K562	blood:
2	chr3:142862489..142866780-chr3:142867641..142872895,6	K562	blood:
3	chr3:142862489..142866063-chr3:142867641..142870966,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10084718	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1056360	0.95[EUR][1000 genomes]
rs1134685	0.95[EUR][1000 genomes]
rs11710763	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11711866	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11718140	0.92[CEU][hapmap]
rs11719768	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1597389	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16853045	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1900994	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1900995	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4683448	0.92[CEU][hapmap]
rs4683449	0.87[CEU][hapmap]
rs4683450	0.89[ASN][1000 genomes]
rs4683451	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683452	0.84[ASN][1000 genomes]
rs4683454	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4683455	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4683741	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4683743	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4683744	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4683745	0.98[EUR][1000 genomes]
rs4683746	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4683747	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6440136	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440137	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440141	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440142	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66726727	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67496487	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67627912	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6770489	0.92[CEU][hapmap]
rs6789472	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6794836	0.92[CEU][hapmap]
rs6801537	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6801610	0.95[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6805732	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68171708	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs726737	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73159623	0.97[EUR][1000 genomes]
rs735564	0.96[CEU][hapmap];0.80[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9829651	0.95[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4683748	MESP1	cis	Frontal Cortex	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142853400-142870600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:142853600-142873000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:142854800-142865800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:142858200-142864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:142859400-142864800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:142859600-142864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:142860000-142866600	Weak transcription	K562	blood
8	chr3:142862400-142863200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:142862800-142866400	Enhancers	Fetal Lung	lung

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