Variant report

Variant	rs6450248
Chromosome Location	chr5:54072926-54072927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10036257	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10036606	0.82[ASN][1000 genomes]
rs10039924	0.93[ASN][1000 genomes]
rs10042288	0.82[ASN][1000 genomes]
rs10042394	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10042495	0.82[ASN][1000 genomes]
rs10045175	0.82[ASN][1000 genomes]
rs10045765	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10045790	0.93[ASN][1000 genomes]
rs10050561	0.92[ASN][1000 genomes]
rs10053168	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10057871	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10058571	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10058862	0.82[ASN][1000 genomes]
rs10061958	1.00[ASN][1000 genomes]
rs10066294	0.81[ASN][1000 genomes]
rs10066622	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10068073	0.94[ASN][1000 genomes]
rs10071183	0.93[ASN][1000 genomes]
rs10073662	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10073721	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10073837	0.96[ASN][1000 genomes]
rs10434559	0.94[ASN][1000 genomes]
rs10461588	0.85[ASN][1000 genomes]
rs10471923	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1073709	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10805463	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10805469	0.81[ASN][1000 genomes]
rs10940428	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11950757	0.96[ASN][1000 genomes]
rs11959080	0.94[ASN][1000 genomes]
rs12514244	0.82[ASN][1000 genomes]
rs12515327	0.81[ASN][1000 genomes]
rs12520494	0.81[ASN][1000 genomes]
rs12522199	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13155441	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13167527	0.82[ASN][1000 genomes]
rs13173669	0.82[ASN][1000 genomes]
rs13180287	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13186826	0.82[ASN][1000 genomes]
rs16883428	0.86[ASN][1000 genomes]
rs1867685	0.96[ASN][1000 genomes]
rs4242044	0.93[ASN][1000 genomes]
rs4242045	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4242046	0.81[ASN][1000 genomes]
rs4242047	0.81[ASN][1000 genomes]
rs4242048	0.81[EUR][1000 genomes]
rs4282277	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4289528	0.81[ASN][1000 genomes]
rs4290968	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4292417	0.88[ASN][1000 genomes]
rs4298212	0.94[ASN][1000 genomes]
rs4320207	0.81[ASN][1000 genomes]
rs4336310	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4356994	0.93[ASN][1000 genomes]
rs4362906	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4451013	0.81[EUR][1000 genomes]
rs4457032	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4498213	0.94[ASN][1000 genomes]
rs4515247	0.97[ASN][1000 genomes]
rs4519880	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4527555	0.82[ASN][1000 genomes]
rs4527556	0.82[ASN][1000 genomes]
rs4591702	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4610422	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4865870	0.94[ASN][1000 genomes]
rs4865872	0.93[ASN][1000 genomes]
rs4865873	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4865874	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4865875	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4865876	0.82[ASN][1000 genomes]
rs59595173	0.94[ASN][1000 genomes]
rs59664922	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60548640	0.97[ASN][1000 genomes]
rs6450247	0.96[ASN][1000 genomes]
rs6450251	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6450252	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6450253	0.82[ASN][1000 genomes]
rs6860729	0.94[ASN][1000 genomes]
rs6863705	0.97[ASN][1000 genomes]
rs6867867	0.93[ASN][1000 genomes]
rs6892315	0.93[ASN][1000 genomes]
rs6899052	0.85[ASN][1000 genomes]
rs73126822	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126828	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126830	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7446423	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7709225	0.97[ASN][1000 genomes]
rs7709401	0.97[ASN][1000 genomes]
rs7726707	1.00[ASN][1000 genomes]
rs7728303	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9292072	1.00[ASN][1000 genomes]
rs9292073	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9292074	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9687636	0.82[ASN][1000 genomes]
rs9968754	0.81[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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54067400-54073400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:54068400-54074800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:54071400-54074600	Weak transcription	NHDF-Ad	bronchial
4	chr5:54071400-54080800	Weak transcription	Primary B cells from cord blood	blood
5	chr5:54072600-54073000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:54072800-54074800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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