Variant report

Variant	rs4239333
Chromosome Location	chr18:8434379-8434380
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11660048	0.92[ASN][1000 genomes]
rs12456951	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12458716	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12605032	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12607406	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12969349	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2125603	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2169012	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2169013	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4239332	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs598517	0.93[ASN][1000 genomes]
rs608064	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs625780	0.92[ASN][1000 genomes]
rs625906	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs654958	0.96[ASN][1000 genomes]
rs655371	0.96[ASN][1000 genomes]
rs655793	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656237	0.96[ASN][1000 genomes]
rs665660	0.99[ASN][1000 genomes]
rs686685	0.92[ASN][1000 genomes]
rs69301	0.99[ASN][1000 genomes]
rs7233494	0.96[ASN][1000 genomes]
rs7245228	0.94[ASN][1000 genomes]
rs735525	0.99[ASN][1000 genomes]
rs8085629	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8085764	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8086939	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8087101	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs898203	0.99[ASN][1000 genomes]
rs898206	0.89[ASN][1000 genomes]
rs930924	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9646494	0.93[ASN][1000 genomes]
rs9948091	0.83[ASN][1000 genomes]
rs9950784	0.96[ASN][1000 genomes]
rs9958744	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9960618	0.83[EUR][1000 genomes];0.96[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	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	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
4	nsv458022	chr18:8417484-8471457	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv576429	chr18:8417484-8471457	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv962957	chr18:8430747-8441037	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8429400-8435000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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