Variant report

Variant	rs5762857
Chromosome Location	chr22:29247097-29247098
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	chr22:29239636..29243251-chr22:29245556..29248104,3	K562	blood:
2	chr22:29240838..29243251-chr22:29245556..29247138,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13053879	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13056243	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs13056546	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13058031	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16986825	0.94[CEU][hapmap];0.84[TSI][hapmap]
rs16986838	0.94[CEU][hapmap];0.83[AFR][1000 genomes]
rs16986861	0.94[CEU][hapmap]
rs16986864	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs16987024	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16987027	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2269578	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2301428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2347448	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs28458474	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2881634	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34206997	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34298044	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34573837	0.82[EUR][1000 genomes]
rs34718288	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34751572	0.82[EUR][1000 genomes]
rs35017742	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35050306	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35814864	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35905502	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36112964	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4055	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs5752794	0.81[EUR][1000 genomes]
rs5752796	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5752797	0.83[CEU][hapmap]
rs5752802	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5752803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5752806	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5752810	0.83[CEU][hapmap]
rs5752811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5752815	0.83[CEU][hapmap]
rs5752816	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762767	0.94[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap]
rs5762780	0.93[CEU][hapmap]
rs5762794	0.86[EUR][1000 genomes]
rs5762799	0.83[CEU][hapmap]
rs5762809	0.83[EUR][1000 genomes]
rs5762812	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762814	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762817	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762818	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762819	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762820	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762821	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762822	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762823	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762839	0.83[CEU][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap]
rs5762848	0.83[CEU][hapmap]
rs5762855	0.86[AFR][1000 genomes]
rs59203761	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs59224170	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60468718	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66471734	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71327317	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73170679	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs739196	0.94[CEU][hapmap];0.84[TSI][hapmap];0.83[AFR][1000 genomes]
rs916332	0.83[AFR][1000 genomes]
rs9625595	0.86[AFR][1000 genomes]
rs9625600	0.86[AFR][1000 genomes]
rs9625612	0.89[EUR][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5762857	MN1	cis	cerebellum	SCAN
rs5762857	RGL4	cis	parietal	SCAN
rs5762857	SUSD2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29226000-29248800	Weak transcription	Primary T cells from cord blood	blood
2	chr22:29234000-29251600	Weak transcription	Fetal Lung	lung
3	chr22:29243200-29249800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr22:29244800-29251400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:29244800-29251800	Weak transcription	Fetal Stomach	stomach
6	chr22:29246000-29252000	Weak transcription	Ovary	ovary
7	chr22:29246200-29251600	Weak transcription	Liver	Liver
8	chr22:29246400-29251800	Weak transcription	Pancreas	Pancrea

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