Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr22:31536053-31537389	ECC-1	luminal epithelium:	n/a	chr22:31536437-31536447

No.	Distal block	Cell Line	Cell type
1	chr22:31367419..31370310-chr22:31536791..31539101,2	MCF-7	breast:
2	chr22:31534966..31537778-chr22:31554685..31557531,2	MCF-7	breast:
3	chr22:31497058..31499268-chr22:31535389..31537818,2	MCF-7	breast:
4	chr22:31491384..31493577-chr22:31536978..31538915,3	K562	blood:

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

rs_ID	r²[population]
rs11703927	0.80[EUR][1000 genomes]
rs13057841	0.95[EUR][1000 genomes]
rs2413048	0.80[EUR][1000 genomes]
rs34873968	0.95[EUR][1000 genomes]
rs4820961	0.81[EUR][1000 genomes]
rs5997887	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5997900	0.93[EUR][1000 genomes]
rs5997909	0.85[EUR][1000 genomes]
rs5997919	0.80[EUR][1000 genomes]
rs5997929	0.81[EUR][1000 genomes]
rs5997938	0.81[EUR][1000 genomes]
rs713947	0.80[EUR][1000 genomes]
rs7285171	0.84[EUR][1000 genomes]
rs7286648	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7287402	0.81[EUR][1000 genomes]
rs7288643	0.81[EUR][1000 genomes]
rs7288735	0.81[EUR][1000 genomes]
rs7289189	0.81[EUR][1000 genomes]
rs7289337	0.81[EUR][1000 genomes]
rs739427	0.81[EUR][1000 genomes]
rs8141987	0.83[EUR][1000 genomes]
rs8143002	0.83[EUR][1000 genomes]
rs9621216	0.85[EUR][1000 genomes]
rs9621221	0.82[EUR][1000 genomes]
rs9621227	0.80[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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' 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	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9619169	SFI1	cis	Thyroid	GTEx
rs9619169	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
2	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
3	chr22:31536200-31538000	Enhancers	Stomach Mucosa	stomach
4	chr22:31536200-31540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:31536400-31537400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr22:31536400-31537800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:31536600-31537400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr22:31536600-31537600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31536600-31538800	Weak transcription	Brain Anterior Caudate	brain
10	chr22:31536600-31538800	Weak transcription	Right Ventricle	heart
11	chr22:31536600-31539800	Enhancers	Esophagus	oesophagus
12	chr22:31536600-31540600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:31536800-31537400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr22:31536800-31537600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:31537000-31537400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:31537000-31537400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:31537000-31538800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:31537200-31538800	Weak transcription	Brain Hippocampus Middle	brain

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