Variant report

No.	Distal block	Cell Line	Cell type
1	chr19:51512058..51513939-chr19:51514740..51518594,3	K562	blood:
2	chr19:51511667..51513229-chr19:51517144..51519553,2	MCF-7	breast:
3	chr19:51517770..51520731-chr19:51521022..51523368,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129451	Chromatin interaction
ENSG00000213022	Chromatin interaction

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

rs_ID	r²[population]
rs1007755	1.00[EUR][1000 genomes]
rs10407410	1.00[EUR][1000 genomes]
rs10416327	1.00[EUR][1000 genomes]
rs10418167	1.00[EUR][1000 genomes]
rs10421703	1.00[EUR][1000 genomes]
rs10422661	1.00[EUR][1000 genomes]
rs10423943	1.00[EUR][1000 genomes]
rs28468451	0.80[ASN][1000 genomes]
rs28693721	1.00[EUR][1000 genomes]
rs57033225	1.00[EUR][1000 genomes]
rs57511882	1.00[EUR][1000 genomes]
rs58664594	1.00[EUR][1000 genomes]
rs58768535	1.00[EUR][1000 genomes]
rs59941188	1.00[EUR][1000 genomes]
rs60865290	1.00[EUR][1000 genomes]
rs61437908	1.00[EUR][1000 genomes]
rs7245714	1.00[EUR][1000 genomes]
rs7255167	1.00[EUR][1000 genomes]
rs7255602	1.00[EUR][1000 genomes]
rs73597589	1.00[EUR][1000 genomes]
rs73597600	1.00[EUR][1000 genomes]
rs73612698	1.00[EUR][1000 genomes]
rs73612702	1.00[EUR][1000 genomes]
rs73932868	1.00[EUR][1000 genomes]
rs73936112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51514400-51519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:51514800-51520200	Weak transcription	Right Atrium	heart
3	chr19:51517000-51518600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:51517400-51518800	Strong transcription	Ovary	ovary
5	chr19:51517400-51519600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:51517400-51520200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:51517600-51519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:51517800-51519600	Weak transcription	NHEK	skin
9	chr19:51518000-51519200	Weak transcription	Esophagus	oesophagus
10	chr19:51518200-51518800	Weak transcription	HMEC	breast
11	chr19:51518200-51519200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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