Variant report

Variant	rs12072057
Chromosome Location	chr1:57117922-57117923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10749708	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10789038	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10889006	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10889008	0.82[AFR][1000 genomes]
rs11206885	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11206888	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11206889	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11206890	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1124900	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12073311	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12738355	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2064421	0.86[EUR][1000 genomes]
rs2064422	0.86[EUR][1000 genomes]
rs2092594	0.82[EUR][1000 genomes]
rs2092595	0.82[EUR][1000 genomes]
rs2245475	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2404718	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2404987	0.80[ASN][1000 genomes]
rs2404994	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2746338	0.86[EUR][1000 genomes]
rs2746339	0.86[EUR][1000 genomes]
rs2746345	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2746348	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2746349	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2746351	0.83[EUR][1000 genomes]
rs2746353	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2796491	0.86[EUR][1000 genomes]
rs2796492	0.86[EUR][1000 genomes]
rs2796493	0.86[EUR][1000 genomes]
rs2796495	0.86[EUR][1000 genomes]
rs2796496	0.86[EUR][1000 genomes]
rs2796498	0.86[EUR][1000 genomes]
rs2796499	0.86[EUR][1000 genomes]
rs2796506	0.82[EUR][1000 genomes]
rs2796507	0.82[EUR][1000 genomes]
rs2796509	0.82[EUR][1000 genomes]
rs2796511	0.82[EUR][1000 genomes]
rs2796512	0.82[EUR][1000 genomes]
rs2796514	0.82[EUR][1000 genomes]
rs2796517	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2796519	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2796523	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2796527	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2796534	0.86[EUR][1000 genomes]
rs2796541	0.86[EUR][1000 genomes]
rs4551620	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59223968	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6588641	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6588643	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683935	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs715404	0.86[EUR][1000 genomes]
rs715405	0.86[EUR][1000 genomes]
rs7547486	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs857148	0.80[EUR][1000 genomes]
rs857150	0.80[EUR][1000 genomes]
rs857155	0.81[EUR][1000 genomes]
rs857156	0.81[EUR][1000 genomes]
rs963528	0.86[EUR][1000 genomes]
rs9887940	0.83[AFR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 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	chr1:57112000-57119800	Weak transcription	HUVEC	blood vessel
2	chr1:57112600-57121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:57112600-57121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:57113000-57122000	Weak transcription	Fetal Kidney	kidney
5	chr1:57114600-57118200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:57116400-57121200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:57116600-57121200	Weak transcription	HepG2	liver
8	chr1:57117200-57118200	Weak transcription	Fetal Heart	heart
9	chr1:57117400-57118400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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