Variant report

Variant	rs4343735
Chromosome Location	chr4:100984063-100984064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
2	chr4:100977704..100980189-chr4:100983347..100984951,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1044044	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs10516458	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap]
rs10516461	0.82[EUR][1000 genomes]
rs11097681	0.80[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs11097686	0.80[ASN][1000 genomes]
rs11097687	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723286	0.84[JPT][hapmap]
rs11723477	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11732182	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11735694	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11736218	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11736719	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11736750	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11931053	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11932783	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11932845	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11935767	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11936580	0.81[ASN][1000 genomes]
rs11937848	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11937985	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs11939538	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11940617	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11941520	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11942532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11944405	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs11944693	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11945303	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs11947412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17029662	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs17029673	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs17029724	0.84[ASN][1000 genomes]
rs2070738	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2081626	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2276939	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs36109329	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737484	0.80[CEU][hapmap];0.84[JPT][hapmap]
rs4492010	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55888547	0.84[ASN][1000 genomes]
rs56159765	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56311063	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57253200	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57315614	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58385517	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60070547	0.84[ASN][1000 genomes]
rs60524451	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61351569	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62306101	0.81[ASN][1000 genomes]
rs6532834	0.84[JPT][hapmap]
rs6532837	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6532839	0.84[ASN][1000 genomes]
rs6532840	0.84[ASN][1000 genomes]
rs6532841	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6532842	0.99[ASN][1000 genomes]
rs66686535	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66775689	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66903712	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67560461	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67594720	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67973788	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6813794	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6816635	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6824513	0.81[ASN][1000 genomes]
rs6825579	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6829912	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs6830286	0.99[ASN][1000 genomes]
rs6832726	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6834448	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6834813	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6836304	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6839278	0.95[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6842492	0.95[ASN][1000 genomes]
rs6842840	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6845556	0.84[JPT][hapmap]
rs6858035	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72686215	0.81[ASN][1000 genomes]
rs7340772	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7340886	0.99[ASN][1000 genomes]
rs7660185	0.81[ASN][1000 genomes]
rs7660479	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7662195	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7665301	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7666156	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7668076	0.99[ASN][1000 genomes]
rs7676597	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7687287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9942267	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9942269	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830018	chr4:100977238-101027920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4343735	MAPKSP1	cis	parietal	SCAN
rs4343735	MAPKSP1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100982800-100984400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:100983200-100985200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:100983200-100985400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:100983600-100984400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:100983600-100984800	Enhancers	NH-A	brain
6	chr4:100984000-100984400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:100984000-100984400	Enhancers	NHDF-Ad	bronchial

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