Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190445684..190447854-chr2:190508008..190509836,2	K562	blood:
2	chr2:190507159..190510939-chr2:190512994..190516291,4	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1055091	0.84[CHB][hapmap]
rs10931430	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs1132360	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs11679767	0.84[JPT][hapmap]
rs1233255	0.88[CEU][hapmap]
rs1233276	0.81[CEU][hapmap]
rs1233284	0.84[CHB][hapmap]
rs1233288	0.84[CHB][hapmap]
rs1233302	0.82[CHB][hapmap]
rs12471663	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693551	0.84[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap]
rs12693557	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs1437891	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs1899025	0.84[CHB][hapmap]
rs2033870	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2289226	0.84[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs4667296	0.83[AMR][1000 genomes]
rs4667297	0.84[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs5742938	0.84[CHB][hapmap]
rs61487110	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6753164	0.82[CEU][hapmap]
rs6756571	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6756913	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6761923	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6942	0.84[CHB][hapmap]
rs7568449	0.89[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7571089	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7591929	0.83[CHB][hapmap]
rs893784	0.84[CHB][hapmap];0.84[JPT][hapmap]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv979380	chr2:190507595-190520005	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs9646811	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs9646811	ASNSD1	cis	Whole Blood	GTEx
rs9646811	ORMDL1	cis	uninvolved skin	skin_eQTL
rs9646811	ORMDL1	cis	Adipose Subcutaneous	GTEx
rs9646811	ORMDL1	cis	multi-tissue	Pritchard
rs9646811	LOC51240	cis	multi-tissue	Pritchard
rs9646811	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs9646811	ORMDL1	cis	normal skin	skin_eQTL
rs9646811	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs9646811	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs9646811	ORMDL1	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190506800-190522400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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