Variant report

Variant	rs737940
Chromosome Location	chr22:30898409-30898410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30898269..30900043-chr22:30984977..30987505,2	K562	blood:
2	chr22:30839710..30841304-chr22:30897619..30899951,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1001409	0.81[EUR][1000 genomes]
rs11912737	0.96[EUR][1000 genomes]
rs12165604	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13053759	0.86[EUR][1000 genomes]
rs13054004	0.82[EUR][1000 genomes]
rs13750	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs16988720	0.97[EUR][1000 genomes]
rs17670808	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs17738527	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs17738540	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs1807514	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859479	0.96[EUR][1000 genomes]
rs2412989	0.97[EUR][1000 genomes]
rs2412990	0.96[EUR][1000 genomes]
rs6518692	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518693	1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs6518694	0.90[CHB][hapmap]
rs6518695	0.97[EUR][1000 genomes]
rs6518698	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7284873	0.81[EUR][1000 genomes]
rs7285878	0.96[EUR][1000 genomes]
rs7287135	0.97[EUR][1000 genomes]
rs7287596	0.97[EUR][1000 genomes]
rs7287943	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7289820	0.86[CEU][hapmap]
rs7289828	0.81[EUR][1000 genomes]
rs7291870	0.96[EUR][1000 genomes]
rs7292573	0.80[EUR][1000 genomes]
rs8136225	0.97[EUR][1000 genomes]
rs8136992	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8137718	0.80[EUR][1000 genomes]
rs8138759	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs8141108	0.97[EUR][1000 genomes]
rs8141286	1.00[CEU][hapmap];0.89[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs8141428	0.96[EUR][1000 genomes]
rs8141671	0.80[EUR][1000 genomes]
rs878306	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886615	0.96[EUR][1000 genomes]
rs886616	0.96[EUR][1000 genomes]
rs886617	0.95[EUR][1000 genomes]
rs9306262	0.97[EUR][1000 genomes]
rs9606735	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs9606736	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs9606738	0.90[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs9606739	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs9606744	0.97[EUR][1000 genomes]
rs9606745	0.97[EUR][1000 genomes]
rs9606746	0.82[EUR][1000 genomes]
rs9606747	0.97[EUR][1000 genomes]
rs9606749	0.96[EUR][1000 genomes]
rs9608941	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs9608942	0.86[CEU][hapmap]
rs9608944	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs9608946	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9608955	0.82[EUR][1000 genomes]
rs9608956	0.95[CEU][hapmap];0.89[GIH][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs9608960	0.97[EUR][1000 genomes]
rs9608964	0.97[EUR][1000 genomes]
rs9608966	0.97[EUR][1000 genomes]
rs9608967	0.97[EUR][1000 genomes]
rs9608968	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv3413089	chr22:30888110-30921604	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs737940	DUSP18	cis	parietal	SCAN
rs737940	SEC14L4	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30883400-30901200	Weak transcription	A549	lung
2	chr22:30891800-30901200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30898200-30900200	Enhancers	Liver	Liver
4	chr22:30898200-30903600	Enhancers	HepG2	liver

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