Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169733934..169735704-chr1:169737869..169740772,2	K562	blood:
2	chr1:169737043..169739732-chr1:169761259..169763805,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1076637	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1076638	0.88[ASN][1000 genomes]
rs10800475	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10919228	0.92[ASN][1000 genomes]
rs10919235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11581380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076368	0.83[CEU][hapmap]
rs1883229	0.83[CEU][hapmap]
rs2205849	0.83[CEU][hapmap]
rs2272818	0.80[AMR][1000 genomes]
rs2420505	0.91[CHB][hapmap]
rs28469136	0.92[ASN][1000 genomes]
rs3917406	0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs3917423	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs3917430	0.83[CEU][hapmap]
rs4265482	0.90[ASN][1000 genomes]
rs4987298	0.83[CEU][hapmap]
rs5353	0.83[MEX][hapmap]
rs5359	0.83[CEU][hapmap]
rs60277710	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6673493	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67193278	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs932307	0.95[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][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	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12027035	FMO2	cis	cerebellum	SCAN
rs12027035	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs12027035	NCR2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169735400-169749000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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