Variant report

Variant	rs6420974
Chromosome Location	chr1:86724057-86724058
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11161787	0.89[EUR][1000 genomes]
rs11161788	0.88[EUR][1000 genomes]
rs1998450	0.81[ASN][1000 genomes]
rs2146566	0.81[ASN][1000 genomes]
rs56144844	0.81[ASN][1000 genomes]
rs59264213	0.81[ASN][1000 genomes]
rs59869307	0.81[ASN][1000 genomes]
rs61302163	0.81[ASN][1000 genomes]
rs6576824	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718057	0.81[ASN][1000 genomes]
rs72718058	0.81[ASN][1000 genomes]
rs72718060	0.81[ASN][1000 genomes]
rs72718063	0.81[ASN][1000 genomes]
rs72718064	0.81[ASN][1000 genomes]
rs72718065	0.81[ASN][1000 genomes]
rs72718068	0.81[ASN][1000 genomes]
rs72718070	0.81[ASN][1000 genomes]
rs72718071	0.81[ASN][1000 genomes]
rs7520020	0.81[ASN][1000 genomes]
rs7521210	0.81[ASN][1000 genomes]
rs7523028	0.81[ASN][1000 genomes]
rs9433006	0.87[EUR][1000 genomes]
rs9433452	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1009092	chr1:86532988-86724805	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535024	chr1:86532988-86724805	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830481	chr1:86550274-86737290	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86723600-86725400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:86723800-86724200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86723800-86724200	Enhancers	Fetal Stomach	stomach
4	chr1:86723800-86724800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:86723800-86724800	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:86723800-86725200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:86724000-86725400	Enhancers	NHDF-Ad	bronchial

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