Variant report

Variant	rs2243479
Chromosome Location	chr1:160948582-160948583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1023115	0.83[ASN][1000 genomes]
rs12723902	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12743772	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2246139	0.84[ASN][1000 genomes]
rs2246593	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2246598	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2249532	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2250288	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256633	0.83[ASN][1000 genomes]
rs2265241	0.84[ASN][1000 genomes]
rs2265328	0.82[ASN][1000 genomes]
rs2265329	0.84[ASN][1000 genomes]
rs2265330	0.82[ASN][1000 genomes]
rs2369977	0.84[ASN][1000 genomes]
rs2481072	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483143	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2483144	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2483148	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28365978	0.82[ASN][1000 genomes]
rs2988723	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2990700	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2990701	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2990704	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2990705	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3007156	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3007157	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656975	0.83[ASN][1000 genomes]
rs6427562	0.84[ASN][1000 genomes]
rs7524408	0.84[ASN][1000 genomes]
rs7530765	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7546890	0.82[ASN][1000 genomes]
rs9427367	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2243479	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160943200-160951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:160943200-160959800	Weak transcription	Pancreas	Pancrea
3	chr1:160943600-160949200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:160943800-160950600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:160944000-160950600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:160947000-160950600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:160948400-160948600	Enhancers	Ovary	ovary
8	chr1:160948400-160948800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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