Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:27048431..27052730-chr4:27053495..27057145,5	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10010180	0.95[CEU][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1012550	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10433805	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs10939147	0.83[CEU][hapmap]
rs12152700	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs16878653	0.91[CEU][hapmap]
rs28668622	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2871256	0.91[CEU][hapmap]
rs2871258	0.94[ASN][1000 genomes]
rs35499018	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3762900	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6448491	0.94[ASN][1000 genomes]
rs6830950	0.81[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6838936	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6855865	0.91[CEU][hapmap]
rs7669818	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7679403	0.83[ASN][1000 genomes]
rs7680613	0.94[ASN][1000 genomes]
rs7681802	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7693687	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7695335	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7700108	0.91[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9291487	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs9998971	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4692142	STIM2	Cis_1M	lymphoblastoid	RTeQTL
rs4692142	STIM2	cis	normal skin	skin_eQTL
rs4692142	STIM2	cis	lesional skin	skin_eQTL
rs4692142	STIM2	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27045800-27050400	Weak transcription	Left Ventricle	heart
2	chr4:27046600-27050000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:27048000-27050200	Enhancers	Liver	Liver
4	chr4:27048000-27050200	Weak transcription	Fetal Kidney	kidney
5	chr4:27048800-27049800	Weak transcription	Fetal Lung	lung

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