Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1006341	0.83[AMR][1000 genomes]
rs10205583	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13014914	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1448472	0.91[ASN][1000 genomes]
rs17044687	0.83[AMR][1000 genomes]
rs17044697	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17044776	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2008495	0.83[AMR][1000 genomes]
rs2121999	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35366253	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4516432	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4849406	0.83[AMR][1000 genomes]
rs4849407	0.83[AMR][1000 genomes]
rs4849408	0.83[AMR][1000 genomes]
rs4849413	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55913162	0.83[AMR][1000 genomes]
rs7419743	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7576503	0.83[ASN][1000 genomes]
rs7602082	0.92[ASN][1000 genomes]
rs7604938	0.91[ASN][1000 genomes]
rs9711166	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014859	chr2:116196951-116938584	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3388257	chr2:116348771-116365419	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10205952	CHCHD5	cis	parietal	SCAN
rs10205952	SLC20A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116353800-116364000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:116355000-116364000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:116358800-116365600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:116359000-116371000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:116359200-116364800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:116359200-116365600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:116362000-116363000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:116362200-116364000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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