Variant report

Variant	rs57386218
Chromosome Location	chr1:85471598-85471599
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11800303	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11807839	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11808352	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56254105	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56973472	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59019108	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296374	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6657216	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095725	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095727	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095734	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095735	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095737	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095739	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545349	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7546496	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7551619	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57386218	MCOLN2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85470800-85472000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:85471000-85472000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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