Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34768738..34771170-chr11:34853652..34856105,2	K562	blood:
2	chr11:34842739..34845478-chr11:34850745..34855445,5	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10501136	0.83[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap]
rs12291580	0.82[CEU][hapmap]
rs2915186	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs473848	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs473885	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs483976	0.86[ASN][1000 genomes]
rs499183	0.87[ASN][1000 genomes]
rs508062	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs512013	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs516228	0.87[ASN][1000 genomes]
rs523246	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs525202	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs535719	0.88[ASN][1000 genomes]
rs537364	0.87[ASN][1000 genomes]
rs537873	0.87[EUR][1000 genomes]
rs539044	0.87[ASN][1000 genomes]
rs546131	0.87[ASN][1000 genomes]
rs548967	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs552868	0.81[ASN][1000 genomes]
rs553789	0.81[ASN][1000 genomes]
rs558967	0.81[ASN][1000 genomes]
rs561477	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs566798	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs568529	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs572690	0.81[ASN][1000 genomes]
rs578002	0.87[ASN][1000 genomes]
rs579926	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs744841	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7946980	0.84[EUR][1000 genomes]
rs836950	0.95[AMR][1000 genomes];0.98[EUR][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	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs502857	APIP	cis	multi-tissue	Pritchard
rs502857	TRIM44	cis	cerebellum	SCAN
rs502857	QSER1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34847200-34858400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:34852000-34858200	Weak transcription	HepG2	liver
3	chr11:34852600-34858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:34853200-34858400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:34853600-34855000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:34854400-34854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:34854400-34854800	Enhancers	Esophagus	oesophagus

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