Variant report

Variant	rs595393
Chromosome Location	chr18:8416997-8416998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1380218	1.00[EUR][1000 genomes]
rs1380220	1.00[EUR][1000 genomes]
rs16953490	1.00[EUR][1000 genomes]
rs57463491	1.00[EUR][1000 genomes]
rs58714972	1.00[EUR][1000 genomes]
rs654933	0.89[LWK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs686797	1.00[EUR][1000 genomes]
rs687608	1.00[EUR][1000 genomes]
rs73382293	1.00[EUR][1000 genomes]
rs73384241	1.00[EUR][1000 genomes]
rs73388260	1.00[EUR][1000 genomes]
rs7342989	1.00[EUR][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:7 , 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	chr18:8415600-8417800	Enhancers	Placenta	Placenta
3	chr18:8415800-8417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:8416200-8417000	Flanking Active TSS	HepG2	liver
5	chr18:8416400-8417000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8416400-8422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:8416600-8417000	Enhancers	NHEK	skin

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

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