Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:127240216..127242638-chr7:127248482..127251048,2	K562	blood:
2	chr7:127249561..127251654-chr7:127253675..127255332,2	K562	blood:
3	chr7:127227957..127230828-chr7:127248126..127251269,4	K562	blood:

Variant related genes	Relation type
ENSG00000004059	Chromatin interaction
ENSG00000106331	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs182750	1.00[ASN][1000 genomes]
rs2582716	0.89[AMR][1000 genomes]
rs327509	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs327514	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs327515	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs327517	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs327522	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs452896	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs537972	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698407	0.89[AMR][1000 genomes]
rs712708	0.89[AMR][1000 genomes]
rs712709	0.89[AMR][1000 genomes]
rs712710	0.89[AMR][1000 genomes]
rs712717	0.89[AMR][1000 genomes]
rs73720863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806126	0.89[AMR][1000 genomes]
rs806161	0.89[AMR][1000 genomes]
rs806167	0.89[AMR][1000 genomes]
rs806168	0.89[AMR][1000 genomes]
rs806170	0.89[AMR][1000 genomes]
rs806171	0.89[AMR][1000 genomes]
rs806182	0.88[ASN][1000 genomes]
rs809333	0.89[AMR][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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127249800-127251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:127249800-127251000	Weak transcription	Gastric	stomach
3	chr7:127249800-127259600	Weak transcription	Pancreas	Pancrea
4	chr7:127250600-127250800	Bivalent Enhancer	Fetal Brain Male	brain

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