Variant report

Variant	rs57275400
Chromosome Location	chr1:103629004-103629005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11581384	0.81[EUR][1000 genomes]
rs11583146	0.81[EUR][1000 genomes]
rs11588054	0.81[EUR][1000 genomes]
rs11588072	0.81[EUR][1000 genomes]
rs11589450	0.81[EUR][1000 genomes]
rs12063499	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12068383	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12070974	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12092464	0.83[EUR][1000 genomes]
rs12095418	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12095853	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4497232	0.81[EUR][1000 genomes]
rs56659384	0.83[EUR][1000 genomes]
rs60582212	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60646698	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61660832	0.81[EUR][1000 genomes]
rs6577357	0.81[EUR][1000 genomes]
rs6577364	0.81[EUR][1000 genomes]
rs6675533	0.81[EUR][1000 genomes]
rs6679075	0.81[EUR][1000 genomes]
rs67273779	0.83[EUR][1000 genomes]
rs67698911	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72687249	0.81[EUR][1000 genomes]
rs72687262	0.81[EUR][1000 genomes]
rs72688823	0.81[EUR][1000 genomes]
rs72688858	0.81[EUR][1000 genomes]
rs7555597	0.81[EUR][1000 genomes]
rs9651150	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2830089	chr1:103615938-103670474	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103628600-103636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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