Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr3:67343145-67344110	HepG2	liver:	n/a	chr3:67343536-67343547 chr3:67343950-67343963
2	CEBPB	chr3:67342939-67344115	HepG2	liver:	n/a	chr3:67343128-67343139
3	JUND	chr3:67343130-67344118	HepG2	liver:	n/a	chr3:67343536-67343547

Variant related genes	Relation type
ENSG00000241884	TF binding region

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1027197	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1027198	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1490273	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17046165	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17046214	0.92[AMR][1000 genomes]
rs17046220	0.92[AMR][1000 genomes]
rs2363710	0.97[ASN][1000 genomes]
rs57388155	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59118239	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59809779	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60400002	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62254720	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62254721	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62254722	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62254725	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62254728	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62254730	0.92[AMR][1000 genomes]
rs62254743	0.92[AMR][1000 genomes]
rs62254744	0.92[AMR][1000 genomes]
rs62254745	0.92[AMR][1000 genomes]
rs62254746	0.92[AMR][1000 genomes]
rs62254747	0.92[AMR][1000 genomes]
rs62254749	0.92[AMR][1000 genomes]
rs6548443	0.83[ASN][1000 genomes]
rs6787783	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1387871	SCGB1D2	trans	brain	seeQTL
rs1387871	VIT	trans	brain	seeQTL
rs1387871	SCGB2A2	trans	brain	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67338800-67344000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:67340800-67347200	Enhancers	HepG2	liver
3	chr3:67343000-67352200	Weak transcription	Aorta	Aorta
4	chr3:67343400-67344000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:67343600-67344000	Enhancers	Psoas Muscle	Psoas
6	chr3:67343600-67345600	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:67343800-67344800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:67343800-67346400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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