Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39127870..39129771-chr7:39130949..39133880,2	K562	blood:

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

rs_ID	r²[population]
rs11761291	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11761423	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11767715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769233	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11773404	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1358003	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1404998	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1525791	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1525792	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16870180	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17171546	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2103194	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61550119	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62442180	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62442188	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62442189	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62442233	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62442235	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62442236	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62442237	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73120491	0.80[EUR][1000 genomes]
rs8180838	0.97[AMR][1000 genomes];0.97[EUR][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	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887968	chr7:39123165-39198960	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830968	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv428163	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39125400-39130200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:39125600-39131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:39125600-39131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:39126600-39131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:39128600-39131200	Weak transcription	Fetal Brain Male	brain
6	chr7:39129200-39129400	Active TSS	Fetal Brain Female	brain
7	chr7:39129200-39129800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:39129200-39135400	Weak transcription	Right Atrium	heart

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