Variant report

Variant	rs9994470
Chromosome Location	chr4:130247519-130247520
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10002933	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10018742	0.85[ASN][1000 genomes]
rs11939768	0.86[ASN][1000 genomes]
rs11939883	0.85[ASN][1000 genomes]
rs28459462	0.98[ASN][1000 genomes]
rs4130024	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4246722	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4246723	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4246725	0.86[ASN][1000 genomes]
rs4324562	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4328927	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4336241	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4348109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4351033	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4356920	0.86[ASN][1000 genomes]
rs4364276	0.98[ASN][1000 genomes]
rs4522874	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4525996	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4604071	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4608824	0.98[ASN][1000 genomes]
rs4975210	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975211	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975212	0.83[EUR][1000 genomes]
rs4975213	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975217	0.84[ASN][1000 genomes]
rs5019103	0.97[ASN][1000 genomes]
rs5019104	0.97[ASN][1000 genomes]
rs6534723	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534724	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534725	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6814634	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6818545	0.86[ASN][1000 genomes]
rs6819060	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6820523	0.81[ASN][1000 genomes]
rs6820852	0.81[ASN][1000 genomes]
rs6821513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842148	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7656960	0.90[AFR][1000 genomes];0.98[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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv879932	chr4:130167642-130264517	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130244400-130248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:130245200-130248200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:130245400-130247800	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:130246000-130251000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:130247400-130248800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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