Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90559982..90565400-chr5:90570467..90573729,4	K562	blood:
2	chr5:90555805..90566288-chr5:90673548..90682139,22	K562	blood:
3	chr5:90562352..90564366-chr5:90565148..90567922,2	K562	blood:
4	chr5:90560937..90569122-chr5:90675177..90680484,12	K562	blood:

Variant related genes	Relation type
ENSG00000199643	Chromatin interaction
ENSG00000113369	Chromatin interaction

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

rs_ID	r²[population]
rs10059932	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10072875	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10074242	0.81[YRI][hapmap]
rs10473941	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10473942	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10474344	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13362365	0.94[EUR][1000 genomes]
rs28379688	0.89[EUR][1000 genomes]
rs28490868	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55657470	0.92[EUR][1000 genomes]
rs55818598	0.89[EUR][1000 genomes]
rs55989779	0.92[EUR][1000 genomes]
rs56082303	0.84[EUR][1000 genomes]
rs56320224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56410910	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57891485	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58520625	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59967608	0.94[EUR][1000 genomes]
rs6877491	0.97[EUR][1000 genomes]
rs73773329	0.81[EUR][1000 genomes]
rs73773330	0.84[EUR][1000 genomes]
rs73773334	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73773337	0.92[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90561000-90564800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:90562200-90564400	Weak transcription	Thymus	Thymus
3	chr5:90562200-90564600	Weak transcription	K562	blood
4	chr5:90562400-90564600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:90562400-90564600	Weak transcription	HMEC	breast
6	chr5:90562600-90564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:90562600-90564600	Weak transcription	Primary T cells from cord blood	blood
8	chr5:90562600-90564600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:90562600-90564600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:90562600-90573200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:90562800-90564600	Weak transcription	GM12878-XiMat	blood
12	chr5:90562800-90564800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:90562800-90568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:90562800-90568600	Weak transcription	Hela-S3	cervix
15	chr5:90562800-90568800	Weak transcription	Fetal Heart	heart

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