Variant report

Variant	rs73295188
Chromosome Location	chr8:105580412-105580413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105578550..105580666-chr8:105596704..105598646,2	K562	blood:
2	chr8:105579835..105582495-chr8:105601223..105602786,2	K562	blood:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs35163714	1.00[AMR][1000 genomes]
rs4427139	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57061880	1.00[AMR][1000 genomes]
rs57149580	1.00[AMR][1000 genomes]
rs59042845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59429525	1.00[AMR][1000 genomes]
rs60616186	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61148214	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61360760	1.00[AMR][1000 genomes]
rs73293290	1.00[AMR][1000 genomes]
rs73293292	1.00[AMR][1000 genomes]
rs73293298	1.00[AMR][1000 genomes]
rs73295103	1.00[AMR][1000 genomes]
rs73295113	1.00[AMR][1000 genomes]
rs73295116	1.00[AMR][1000 genomes]
rs73295148	1.00[AMR][1000 genomes]
rs73295155	1.00[AMR][1000 genomes]
rs73295157	1.00[AMR][1000 genomes]
rs73295168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297130	1.00[AMR][1000 genomes]
rs73297134	1.00[AMR][1000 genomes]
rs73297137	1.00[AMR][1000 genomes]
rs73297149	1.00[AMR][1000 genomes]
rs7813481	1.00[AMR][1000 genomes]
rs7832864	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
2	chr8:105566200-105587200	Weak transcription	Left Ventricle	heart
3	chr8:105566400-105583400	Weak transcription	Fetal Thymus	thymus
4	chr8:105571200-105580800	Weak transcription	NHDF-Ad	bronchial
5	chr8:105574400-105580800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:105577800-105581600	Weak transcription	K562	blood
7	chr8:105579800-105587600	Weak transcription	Fetal Heart	heart
8	chr8:105580000-105581200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:105580400-105580600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:105580400-105581600	Enhancers	Osteobl	bone
11	chr8:105580400-105583800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:105580400-105586200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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