Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147439149..147441922-chr5:147442667..147445001,2	K562	blood:

Variant related genes	Relation type
ENSG00000133710	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10037673	0.87[AFR][1000 genomes]
rs10041966	0.85[AFR][1000 genomes]
rs10052920	0.83[AFR][1000 genomes]
rs10063124	0.92[AFR][1000 genomes]
rs10064440	0.88[AFR][1000 genomes]
rs10067543	0.92[AFR][1000 genomes]
rs10070507	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10477361	0.92[AFR][1000 genomes]
rs1422984	0.85[AFR][1000 genomes]
rs2287771	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28573919	0.92[AFR][1000 genomes]
rs4705222	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57804951	0.84[AFR][1000 genomes]
rs60076377	0.83[AFR][1000 genomes]
rs67918261	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652849	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72652850	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72660252	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72660253	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72660254	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72660255	0.93[EUR][1000 genomes]
rs9325060	0.85[AFR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147437200-147457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:147437800-147450200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:147437800-147463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:147440400-147449600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:147440400-147452800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:147441000-147443200	Weak transcription	NHEK	skin
7	chr5:147441000-147443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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