Variant report

Variant	rs10918369
Chromosome Location	chr1:166088405-166088406
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	chr1:166083108..166085855-chr1:166087438..166089493,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10494453	0.95[TSI][hapmap]
rs10753702	0.81[JPT][hapmap];0.83[MEX][hapmap]
rs10753709	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10800184	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10800185	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10800198	0.90[TSI][hapmap]
rs10918367	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10918368	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10918385	0.88[AMR][1000 genomes]
rs11590461	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12076837	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs12126834	0.88[AMR][1000 genomes]
rs12144426	0.86[AMR][1000 genomes]
rs1432119	0.88[AMR][1000 genomes]
rs1529642	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1530889	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2116519	0.94[ASW][hapmap];0.91[CEU][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4072242	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4074897	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147071	0.82[CHB][hapmap];0.80[MEX][hapmap]
rs4339838	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4449996	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4542195	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4656481	0.88[ASW][hapmap];0.91[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4656485	0.85[YRI][hapmap]
rs4657520	0.82[CHB][hapmap];0.80[MEX][hapmap]
rs4657530	0.88[AMR][1000 genomes]
rs6426968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6426970	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6681924	0.94[ASW][hapmap];0.86[CEU][hapmap];0.80[CHD][hapmap];0.80[GIH][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs6698285	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698973	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs715421	0.95[TSI][hapmap]
rs724139	0.95[YRI][hapmap]
rs7513325	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7521995	0.82[CHB][hapmap];0.80[MEX][hapmap]
rs7553768	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs919674	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9787101	0.95[TSI][hapmap]

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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10918369	RCSD1	cis	parietal	SCAN
rs10918369	TIPRL	cis	cerebellum	SCAN
rs10918369	CD48	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166080800-166104200	Weak transcription	Pancreas	Pancrea
2	chr1:166083000-166110800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:166085400-166093200	Weak transcription	Spleen	Spleen
4	chr1:166087200-166089200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:166088200-166089400	Enhancers	Brain Germinal Matrix	brain
6	chr1:166088200-166091400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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