Variant report

No.	Distal block	Cell Line	Cell type
1	chr15:43601284..43603665-chr15:43609829..43611668,2	MCF-7	breast:
2	chr15:43608442..43611143-chr15:43626377..43627931,2	K562	blood:
3	chr15:43606648..43611125-chr15:43620820..43625585,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168803	Chromatin interaction
ENSG00000168806	Chromatin interaction

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

rs_ID	r²[population]
rs1095386	0.89[EUR][1000 genomes]
rs1123947	0.87[EUR][1000 genomes]
rs11858152	0.85[EUR][1000 genomes]
rs12101673	0.89[EUR][1000 genomes]
rs1549523	0.89[EUR][1000 genomes]
rs1549525	0.89[EUR][1000 genomes]
rs2278858	0.90[EUR][1000 genomes]
rs2278859	0.89[EUR][1000 genomes]
rs28446815	0.85[EUR][1000 genomes]
rs28578454	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28594657	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28758627	0.86[EUR][1000 genomes]
rs3742969	0.89[EUR][1000 genomes]
rs3742971	0.89[EUR][1000 genomes]
rs3809481	0.86[EUR][1000 genomes]
rs478104	0.87[EUR][1000 genomes]
rs484029	0.89[EUR][1000 genomes]
rs484846	0.89[EUR][1000 genomes]
rs491648	0.85[EUR][1000 genomes]
rs498837	0.89[EUR][1000 genomes]
rs511673	0.89[EUR][1000 genomes]
rs528517	0.89[EUR][1000 genomes]
rs540031	0.89[EUR][1000 genomes]
rs7168940	0.89[EUR][1000 genomes]
rs7175434	0.89[EUR][1000 genomes]
rs825739	0.87[EUR][1000 genomes]
rs825740	0.87[EUR][1000 genomes]
rs933941	0.81[EUR][1000 genomes]
rs935901	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs956391	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs12440854	ADAL	cis	Heart Left Ventricle	GTEx
rs12440854	ADAL	Cis_1M	lymphoblastoid	RTeQTL
rs12440854	ADAL	cis	Nerve Tibial	GTEx
rs12440854	ADAL	cis	lung	GTEx
rs12440854	ADAL	cis	multi-tissue	Pritchard
rs12440854	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs12440854	ADAL	cis	Esophagus Muscularis	GTEx
rs12440854	CKMT1A	cis	Esophagus Mucosa	GTEx
rs12440854	ADAL	cis	Artery Tibial	GTEx
rs12440854	ADAL	cis	Adipose Subcutaneous	GTEx
rs12440854	ADAL	cis	Muscle Skeletal	GTEx
rs12440854	ADAL	cis	Artery Aorta	GTEx
rs12440854	ADAL	cis	Thyroid	GTEx
rs12440854	ADAL	cis	Stomach	GTEx
rs12440854	ADAL	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43609000-43620200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:43610000-43611200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43610200-43610800	Enhancers	HepG2	liver
4	chr15:43610200-43612600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

Quick Search: