Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7422410..7425121-chr2:7425565..7428541,2	K562	blood:
2	chr2:7418404..7420532-chr2:7423669..7426078,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10205728	0.80[ASN][1000 genomes]
rs10929475	0.91[ASN][1000 genomes]
rs10929476	0.91[ASN][1000 genomes]
rs11678656	0.80[ASN][1000 genomes]
rs11884068	0.91[ASN][1000 genomes]
rs11884070	0.91[ASN][1000 genomes]
rs11886727	0.91[ASN][1000 genomes]
rs11901709	0.91[ASN][1000 genomes]
rs12473073	0.91[ASN][1000 genomes]
rs12473177	0.91[ASN][1000 genomes]
rs12473199	0.91[ASN][1000 genomes]
rs12478133	0.91[ASN][1000 genomes]
rs12990139	0.91[ASN][1000 genomes]
rs13007576	0.90[ASN][1000 genomes]
rs13013561	0.91[ASN][1000 genomes]
rs13025095	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13405590	0.80[ASN][1000 genomes]
rs1430298	0.91[ASN][1000 genomes]
rs16866054	0.81[ASN][1000 genomes]
rs2013746	0.83[ASN][1000 genomes]
rs4668534	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4668535	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57998976	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6707908	0.81[ASN][1000 genomes]
rs6756373	0.85[EUR][1000 genomes];0.94[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	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv833337	chr2:7337273-7521146	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1006240	chr2:7408292-7664557	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535578	chr2:7408292-7664557	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:7400200-7428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:7419200-7425400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:7421800-7424600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:7421800-7424800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:7421800-7429800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:7422000-7425200	Weak transcription	Pancreas	Pancrea
7	chr2:7422200-7424000	Weak transcription	Thymus	Thymus

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