Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:93296941..93299112-chr1:93527214..93529476,2	K562	blood:
2	chr1:93493844..93495450-chr1:93525930..93527938,2	K562	blood:
3	chr1:93308545..93311072-chr1:93527284..93530224,2	K562	blood:
4	chr1:93485808..93487588-chr1:93526047..93528280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction

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

rs_ID	r²[population]
rs10874755	0.88[ASN][1000 genomes]
rs12723222	0.84[ASN][1000 genomes]
rs1382899	0.87[ASN][1000 genomes]
rs2249471	0.89[ASN][1000 genomes]
rs2249474	0.89[ASN][1000 genomes]
rs2249590	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249591	0.88[ASN][1000 genomes]
rs2249734	0.88[ASN][1000 genomes]
rs2260224	0.89[ASN][1000 genomes]
rs2265430	0.90[ASN][1000 genomes]
rs2619818	0.89[ASN][1000 genomes]
rs2785597	0.90[ASN][1000 genomes]
rs520885	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs524518	0.88[ASN][1000 genomes]
rs525432	0.88[ASN][1000 genomes]
rs670208	0.83[ASN][1000 genomes]
rs671012	0.88[ASN][1000 genomes]
rs682967	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7525959	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7545916	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93525800-93528600	Enhancers	Fetal Thymus	thymus
2	chr1:93525800-93528600	Enhancers	Dnd41	blood
3	chr1:93527200-93527600	Weak transcription	Thymus	Thymus

Quick Search: