Variant report

Variant	rs59581675
Chromosome Location	chr5:147439246-147439247
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	chr5:147424525..147426952-chr5:147437496..147439638,2	K562	blood:
2	chr5:147439149..147441922-chr5:147442667..147445001,2	K562	blood:

Variant related genes	Relation type
ENSG00000133710	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1422985	0.93[EUR][1000 genomes]
rs1422986	0.93[EUR][1000 genomes]
rs17107705	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17718511	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17718535	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17718737	0.93[EUR][1000 genomes]
rs17860502	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1833769	0.86[ASN][1000 genomes]
rs2287774	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303069	0.93[EUR][1000 genomes]
rs3752677	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777138	0.93[EUR][1000 genomes]
rs3815734	0.86[EUR][1000 genomes]
rs56945766	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58359628	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59140447	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59900981	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60978485	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61547850	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61612041	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73269110	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269112	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73269121	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73271110	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7705278	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7706528	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7719473	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933016	chr5:147395849-147453701	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147436200-147440800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147437200-147457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:147437800-147450200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:147437800-147463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:147439000-147439600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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