Variant report

Variant	rs4599390
Chromosome Location	chr4:47335743-47335744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10000697	0.89[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap]
rs10023965	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap]
rs10440176	0.86[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs1076015	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs11731871	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap]
rs11737184	0.84[ASN][1000 genomes]
rs12331018	0.89[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap]
rs12500794	0.83[ASN][1000 genomes]
rs17600296	0.81[JPT][hapmap]
rs35744755	0.81[JPT][hapmap]
rs3822112	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap]
rs4261959	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4261968	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4302438	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap]
rs4386575	0.85[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs4396966	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs4495018	0.88[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs4508859	0.84[ASN][1000 genomes]
rs4577548	0.81[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap]
rs4588429	0.85[CEU][hapmap]
rs4597807	0.87[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap]
rs4695209	0.81[JPT][hapmap]
rs6447546	0.89[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.84[ASN][1000 genomes]
rs6820498	0.93[JPT][hapmap]
rs6831556	0.85[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs7665508	0.85[CEU][hapmap];0.89[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs7674333	0.87[CEU][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7683663	0.84[ASN][1000 genomes]
rs7683676	0.84[ASN][1000 genomes]
rs7687439	0.88[CEU][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9291305	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9917915	0.88[CEU][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4599390	TXK	cis	parietal	SCAN
rs4599390	CORIN	cis	parietal	SCAN
rs4599390	YIPF7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47332200-47336000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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