Variant report

Variant	rs2504514
Chromosome Location	chr1:176283338-176283339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10458350	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798448	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11582888	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12117920	0.84[ASN][1000 genomes]
rs12137300	0.85[ASN][1000 genomes]
rs1354286	0.81[ASN][1000 genomes]
rs1503124	0.81[EUR][1000 genomes]
rs1553770	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1858181	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1912243	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2221333	0.80[EUR][1000 genomes]
rs2455727	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2455729	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2455731	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2455748	0.80[EUR][1000 genomes]
rs2455750	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2455756	0.89[ASN][1000 genomes]
rs2504472	0.88[ASN][1000 genomes]
rs2504492	0.80[EUR][1000 genomes]
rs2504494	0.80[EUR][1000 genomes]
rs2504499	0.80[EUR][1000 genomes]
rs2504502	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2504503	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2504512	0.89[ASN][1000 genomes]
rs2861675	0.85[ASN][1000 genomes]
rs3123622	0.81[EUR][1000 genomes]
rs352311	0.87[ASN][1000 genomes]
rs352312	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs352314	0.85[ASN][1000 genomes]
rs4442332	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4642850	0.82[EUR][1000 genomes]
rs4652156	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7538600	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176283000-176283400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:176283000-176283400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:176283000-176283600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:176283000-176283800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:176283000-176284000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:176283200-176283600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:176283200-176283800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:176283200-176284000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:176283200-176284000	Active TSS	K562	blood

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