Variant report

Variant	rs72748646
Chromosome Location	chr5:42033413-42033414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10044526	1.00[EUR][1000 genomes]
rs11738449	1.00[EUR][1000 genomes]
rs11742939	1.00[EUR][1000 genomes]
rs11744111	0.81[EUR][1000 genomes]
rs13360765	0.98[EUR][1000 genomes]
rs16872094	1.00[EUR][1000 genomes]
rs16872097	1.00[EUR][1000 genomes]
rs16872099	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872100	0.96[EUR][1000 genomes]
rs16872111	0.96[EUR][1000 genomes]
rs16872114	1.00[EUR][1000 genomes]
rs1813615	1.00[EUR][1000 genomes]
rs1813616	1.00[EUR][1000 genomes]
rs2011105	1.00[EUR][1000 genomes]
rs2113053	0.91[EUR][1000 genomes]
rs2161581	1.00[EUR][1000 genomes]
rs4626371	0.81[EUR][1000 genomes]
rs4957182	0.89[EUR][1000 genomes]
rs59778370	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs666581	0.81[EUR][1000 genomes]
rs6870241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72746952	0.82[AMR][1000 genomes]
rs72746962	0.82[AMR][1000 genomes]
rs72746968	0.82[AMR][1000 genomes]
rs72746975	0.82[AMR][1000 genomes]
rs72746995	0.82[AMR][1000 genomes]
rs72747001	0.82[AMR][1000 genomes]
rs72748623	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72748626	0.91[EUR][1000 genomes]
rs72748630	0.98[EUR][1000 genomes]
rs72748631	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72748633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748635	1.00[EUR][1000 genomes]
rs72748636	1.00[EUR][1000 genomes]
rs72748638	1.00[EUR][1000 genomes]
rs72748639	1.00[EUR][1000 genomes]
rs72748641	1.00[EUR][1000 genomes]
rs72748645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72748687	0.81[EUR][1000 genomes]
rs72748699	0.81[EUR][1000 genomes]
rs989747	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
2	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
3	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
4	nsv880627	chr5:41966551-42087954	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42028400-42034600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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