Variant report

Variant	rs62169464
Chromosome Location	chr2:148531790-148531791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1112809	0.94[EUR][1000 genomes]
rs1406444	0.94[EUR][1000 genomes]
rs17742134	0.82[AFR][1000 genomes]
rs17742246	0.82[AFR][1000 genomes]
rs1881571	0.94[EUR][1000 genomes]
rs1919447	0.94[EUR][1000 genomes]
rs1969547	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2049740	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4290595	0.85[EUR][1000 genomes]
rs62169465	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6430240	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6733995	0.94[EUR][1000 genomes]
rs7581569	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7607970	0.96[EUR][1000 genomes];0.82[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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv1842822	chr2:148505544-148542682	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148530800-148531800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:148531000-148531800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:148531200-148531800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:148531200-148532200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:148531600-148534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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

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