Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr5:124369974-124370508	ECC-1	luminal epithelium:	n/a	n/a
2	STAT3	chr5:124370008-124370193	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000250411	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10051816	0.83[EUR][1000 genomes]
rs10051865	0.83[EUR][1000 genomes]
rs10059682	1.00[EUR][1000 genomes]
rs10059820	0.83[EUR][1000 genomes]
rs10061638	0.83[EUR][1000 genomes]
rs10065416	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10076719	0.83[EUR][1000 genomes]
rs10076822	0.83[EUR][1000 genomes]
rs28379635	0.83[EUR][1000 genomes]
rs28421593	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56878962	0.83[EUR][1000 genomes]
rs60081045	0.83[EUR][1000 genomes]
rs60582094	0.83[EUR][1000 genomes]
rs6862844	0.83[EUR][1000 genomes]
rs6862998	0.83[EUR][1000 genomes]
rs6867051	0.83[EUR][1000 genomes]
rs6867249	0.83[EUR][1000 genomes]
rs6870217	0.83[EUR][1000 genomes]
rs6874077	0.83[EUR][1000 genomes]
rs6874416	0.83[EUR][1000 genomes]
rs6875818	0.83[EUR][1000 genomes]
rs6891699	0.83[EUR][1000 genomes]
rs73308717	1.00[AMR][1000 genomes]
rs73308729	1.00[AMR][1000 genomes]
rs73308739	0.83[EUR][1000 genomes]
rs73308741	1.00[AMR][1000 genomes]
rs73308743	1.00[AMR][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124363400-124377600	Weak transcription	Fetal Kidney	kidney
2	chr5:124365400-124379400	Weak transcription	Pancreas	Pancrea
3	chr5:124368400-124370800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:124368600-124371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:124368800-124370800	Enhancers	Dnd41	blood
6	chr5:124369000-124371600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:124369600-124370200	Enhancers	Duodenum Mucosa	Duodenum
8	chr5:124370000-124370600	Enhancers	Liver	Liver
9	chr5:124370000-124370600	Enhancers	Stomach Mucosa	stomach

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