Variant report

Variant	rs1996140
Chromosome Location	chr4:90082799-90082800
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10025332	0.81[ASN][1000 genomes]
rs55806245	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56147277	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61082288	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61295522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825767	0.81[ASN][1000 genomes]
rs6825804	0.81[ASN][1000 genomes]
rs6832298	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72668192	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72668193	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72668195	0.81[ASN][1000 genomes]
rs72668196	0.81[ASN][1000 genomes]
rs72670003	0.81[ASN][1000 genomes]
rs72670004	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72670006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670007	0.99[ASN][1000 genomes]
rs756227	0.81[ASN][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv830002	chr4:90056232-90258865	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90079000-90085200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:90080000-90083000	Weak transcription	A549	lung
3	chr4:90080600-90083000	Enhancers	HUVEC	blood vessel
4	chr4:90082200-90085200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:90082600-90084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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