Variant report

Variant	rs4565720
Chromosome Location	chr1:222148299-222148300
allele	A/G
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:17)

rs_ID	r²[population]
rs11118911	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11118921	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118922	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118923	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118924	0.90[ASN][1000 genomes]
rs12070612	0.88[ASN][1000 genomes]
rs12083686	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12090915	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12403104	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17495034	0.85[ASN][1000 genomes]
rs34601597	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34736719	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4291507	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59826275	0.81[ASN][1000 genomes]
rs61823898	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7517045	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7538348	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3323289	chr1:222144429-222148627	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222139000-222152200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222143800-222148400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:222146200-222150800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:222146200-222163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:222146400-222148800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:222146400-222149400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:222146400-222149400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:222146400-222151000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:222146400-222151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:222146400-222152200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:222147400-222149800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:222147600-222149200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:222147800-222148600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:222147800-222152400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:222148200-222149000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:222148200-222149400	Enhancers	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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