Variant report

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr1:154538448-154538719	K562	blood:	n/a	n/a
2	SIX5	chr1:154538450-154538650	K562	blood:	n/a	n/a

No data

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No.	Distal block	Cell Line	Cell type
1	chr1:154530233..154533708-chr1:154538204..154541561,4	K562	blood:
2	chr1:154537067..154539429-chr1:154973511..154975398,2	MCF-7	breast:
3	chr1:154530233..154532966-chr1:154538204..154541561,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2Q1-1	chr1:154533953-154538658	NONHSAT006627

No data

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2280781	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4074436	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4845378	0.94[EUR][1000 genomes]
rs4845649	0.87[EUR][1000 genomes]
rs4845652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55908418	0.94[EUR][1000 genomes]
rs61811370	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811371	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811372	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6427741	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72698182	0.94[EUR][1000 genomes]
rs7539745	1.00[JPT][hapmap]
rs7543174	0.82[JPT][hapmap]
rs7550664	0.81[ASN][1000 genomes]
rs7553602	1.00[JPT][hapmap];0.81[ASN][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6660775	UBE2Q1	cis	multi-tissue	Pritchard

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154532400-154539000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:154532400-154539200	Weak transcription	Fetal Brain Female	brain
3	chr1:154532400-154539800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:154532600-154539200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:154537400-154539000	Weak transcription	Brain Germinal Matrix	brain

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