Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38498487..38501479-chr13:38515502..38517509,2	K562	blood:
2	chr13:38498164..38500291-chr13:38507345..38509596,2	K562	blood:

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

rs_ID	r²[population]
rs1093510	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337085	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378806	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17210436	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1953688	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068890	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2786642	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786643	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73170487	0.95[EUR][1000 genomes]
rs73170494	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325031	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73466440	0.86[ASN][1000 genomes]
rs7992568	1.00[JPT][hapmap]
rs817735	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817736	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817737	0.83[EUR][1000 genomes]
rs846414	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846415	0.81[EUR][1000 genomes]
rs863661	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315527	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9603289	0.86[ASN][1000 genomes]
rs961158	1.00[AMR][1000 genomes];1.00[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899997	chr13:38480878-38518459	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38494400-38500200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:38498600-38500200	Enhancers	Fetal Heart	heart
3	chr13:38499800-38500600	Active TSS	Stomach Smooth Muscle	stomach
4	chr13:38499800-38501600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

Quick Search: