Variant report

Variant	rs16953484
Chromosome Location	chr18:8416335-8416336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12957274	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12968293	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs593102	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs593445	0.81[EUR][1000 genomes]
rs637785	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs638153	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs652669	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs653072	0.81[JPT][hapmap]
rs658901	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8412600-8423000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:8415600-8416400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:8415600-8417800	Enhancers	Placenta	Placenta
4	chr18:8415800-8417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:8416200-8416800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:8416200-8417000	Flanking Active TSS	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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