Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:54770995..54772909-chr8:54774285..54777231,3	MCF-7	breast:
2	chr8:54647068..54647713-chr8:54775574..54776093,2	MCF-7	breast:
3	chr8:53878057..53878612-chr8:54775599..54776413,2	K562	blood:
4	chr8:54754676..54757522-chr8:54774455..54776549,2	K562	blood:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11986029	1.00[EUR][1000 genomes]
rs11990964	1.00[AMR][1000 genomes]
rs16919597	1.00[EUR][1000 genomes]
rs41272421	1.00[EUR][1000 genomes]
rs57594047	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57924266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59128603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60296248	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60437052	1.00[AMR][1000 genomes]
rs73680313	1.00[AMR][1000 genomes]
rs73680327	1.00[EUR][1000 genomes]
rs73680328	1.00[EUR][1000 genomes]
rs73680329	1.00[EUR][1000 genomes]
rs73680330	1.00[EUR][1000 genomes]
rs73680331	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680336	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680348	1.00[AMR][1000 genomes]
rs73680349	1.00[AMR][1000 genomes]
rs73680350	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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54759200-54780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:54775800-54776200	Bivalent Enhancer	Brain Hippocampus Middle	brain
3	chr8:54775800-54778200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:54776000-54776200	Enhancers	Brain Anterior Caudate	brain
5	chr8:54776000-54776200	Enhancers	NHDF-Ad	bronchial
6	chr8:54776000-54778400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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