Variant report

Variant	rs4242045
Chromosome Location	chr5:54106378-54106379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54102068..54104903-chr5:54105238..54107823,3	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10036257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036606	1.00[ASN][1000 genomes]
rs10039924	0.89[ASN][1000 genomes]
rs10042288	1.00[ASN][1000 genomes]
rs10042394	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10042495	1.00[ASN][1000 genomes]
rs10043408	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10044938	0.91[AFR][1000 genomes]
rs10045175	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045765	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045790	0.89[ASN][1000 genomes]
rs10050561	0.88[ASN][1000 genomes]
rs10053168	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10057871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058862	1.00[ASN][1000 genomes]
rs10058905	0.85[AFR][1000 genomes]
rs10061958	0.82[ASN][1000 genomes]
rs10066294	0.98[ASN][1000 genomes]
rs10066622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066683	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10068073	0.88[ASN][1000 genomes]
rs10071183	0.89[ASN][1000 genomes]
rs10073662	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10073721	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10434559	0.88[ASN][1000 genomes]
rs10461588	0.97[ASN][1000 genomes]
rs10471923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073709	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737956	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10805463	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10805468	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805469	0.98[ASN][1000 genomes]
rs10940427	0.94[ASN][1000 genomes]
rs10940428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950757	0.86[ASN][1000 genomes]
rs11952681	0.96[ASN][1000 genomes]
rs11959080	0.88[ASN][1000 genomes]
rs12514244	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515327	0.98[ASN][1000 genomes]
rs12520494	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12522199	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161386	0.96[ASN][1000 genomes]
rs13161718	0.96[ASN][1000 genomes]
rs13167527	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171964	0.96[ASN][1000 genomes]
rs13173669	1.00[ASN][1000 genomes]
rs13180287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186455	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13186826	1.00[ASN][1000 genomes]
rs35922886	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4074332	0.83[CEU][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs4242044	0.89[ASN][1000 genomes]
rs4242046	0.98[ASN][1000 genomes]
rs4242047	0.98[ASN][1000 genomes]
rs4242048	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4282277	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4289528	0.98[ASN][1000 genomes]
rs4290968	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4292417	0.82[ASN][1000 genomes]
rs4298212	0.88[ASN][1000 genomes]
rs4320207	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4336310	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4336311	0.96[ASN][1000 genomes]
rs4356994	0.89[ASN][1000 genomes]
rs4362906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437335	0.96[ASN][1000 genomes]
rs4451013	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4451014	0.96[ASN][1000 genomes]
rs4457032	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4464652	0.84[AFR][1000 genomes]
rs4498213	0.88[ASN][1000 genomes]
rs4505913	0.88[ASN][1000 genomes]
rs4519880	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527555	1.00[ASN][1000 genomes]
rs4527556	1.00[ASN][1000 genomes]
rs4582235	0.96[ASN][1000 genomes]
rs4591702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645296	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4865586	0.86[JPT][hapmap]
rs4865587	0.81[EUR][1000 genomes]
rs4865870	0.88[ASN][1000 genomes]
rs4865872	0.89[ASN][1000 genomes]
rs4865873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4865874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4865875	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865876	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4865877	0.96[ASN][1000 genomes]
rs59664922	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62355005	0.83[AFR][1000 genomes]
rs6450248	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6450251	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450253	1.00[ASN][1000 genomes]
rs6860729	0.88[ASN][1000 genomes]
rs6860824	0.86[JPT][hapmap]
rs6863705	0.88[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs6867867	0.89[ASN][1000 genomes]
rs6887578	0.96[ASN][1000 genomes]
rs6891667	0.83[EUR][1000 genomes]
rs6892315	0.89[ASN][1000 genomes]
rs6899052	0.97[ASN][1000 genomes]
rs73126822	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73126828	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73126830	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7446423	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7446869	0.96[ASN][1000 genomes]
rs7448996	0.83[EUR][1000 genomes]
rs7726707	0.82[ASN][1000 genomes]
rs7728303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728418	0.82[ASN][1000 genomes]
rs7731103	0.97[ASN][1000 genomes]
rs9292072	0.82[ASN][1000 genomes]
rs9292073	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9292074	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687636	1.00[ASN][1000 genomes]
rs9968754	0.98[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	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
3	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2754136	chr5:54083387-54107727	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54103800-54108200	Weak transcription	Fetal Heart	heart
2	chr5:54104400-54108600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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