Variant report

Variant	rs9852783
Chromosome Location	chr3:43668176-43668177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43667036..43668820-chr3:43670464..43672019,2	K562	blood:
2	chr3:43665754..43669395-chr3:43673645..43675395,3	K562	blood:
3	chr3:43662713..43666658-chr3:43667017..43671388,7	K562	blood:
4	chr3:43667496..43670306-chr3:43725898..43728392,2	K562	blood:
5	chr3:43668066..43670803-chr3:43728566..43730812,2	K562	blood:
6	chr3:43665014..43668308-chr3:43672190..43675503,3	K562	blood:

Variant related genes	Relation type
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1013758	0.81[ASW][hapmap];0.82[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10461013	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10461015	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130004	0.91[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs11130005	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12486736	0.81[EUR][1000 genomes]
rs12492694	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs12638282	0.91[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs13319147	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351631	0.91[GIH][hapmap];0.91[TSI][hapmap]
rs1384435	0.91[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1564434	0.91[GIH][hapmap];0.91[TSI][hapmap]
rs1842807	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1975997	0.91[GIH][hapmap];0.91[TSI][hapmap]
rs2101064	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs3772160	0.81[ASW][hapmap];0.82[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4547674	0.88[GIH][hapmap];0.82[TSI][hapmap]
rs61102363	0.81[ASN][1000 genomes]
rs6769576	0.88[GIH][hapmap]
rs737516	0.91[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs9311340	0.91[GIH][hapmap];0.91[TSI][hapmap]
rs9809643	0.91[ASW][hapmap];0.82[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9814737	0.80[EUR][1000 genomes]
rs9815196	0.91[GIH][hapmap];0.91[TSI][hapmap]
rs9826275	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9829067	0.81[EUR][1000 genomes]
rs9834786	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9873316	0.80[EUR][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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9852783	RPL14	cis	parietal	SCAN
rs9852783	MRPS18A	trans	cerebellum	SCAN
rs9852783	SNRK	cis	cerebellum	SCAN
rs9852783	PTH1R	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43664200-43688400	Weak transcription	Aorta	Aorta
2	chr3:43664400-43668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:43664400-43668600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:43664400-43668600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:43664400-43668800	Weak transcription	Primary T cells from cord blood	blood
6	chr3:43664400-43668800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:43664400-43670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:43664400-43673600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:43664600-43668600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:43664600-43673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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