Variant report

Variant	rs12070903
Chromosome Location	chr1:57139071-57139072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10789040	0.81[EUR][1000 genomes]
rs10889008	0.81[EUR][1000 genomes]
rs10889009	0.81[EUR][1000 genomes]
rs10889010	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11206899	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11206900	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11804779	0.82[EUR][1000 genomes]
rs12092267	0.81[EUR][1000 genomes]
rs12097148	0.81[EUR][1000 genomes]
rs12121876	0.83[ASN][1000 genomes]
rs13374924	0.82[EUR][1000 genomes]
rs2064421	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064422	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2092594	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2092595	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2143754	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2245475	0.81[AMR][1000 genomes]
rs2746338	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746339	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2746348	0.81[AMR][1000 genomes]
rs2746349	0.81[AMR][1000 genomes]
rs2796491	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2796492	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2796493	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2796495	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2796496	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2796498	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796499	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2796506	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2796507	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2796509	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2796511	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2796512	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2796514	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2796534	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2796541	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4568857	0.85[ASN][1000 genomes]
rs6671760	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683935	0.81[AMR][1000 genomes]
rs715404	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs715405	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7366969	0.83[AMR][1000 genomes]
rs7367181	0.87[AMR][1000 genomes]
rs7367199	0.84[AMR][1000 genomes]
rs7415042	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs857132	0.86[AMR][1000 genomes]
rs857147	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs857148	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs857150	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs857155	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs857156	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs857159	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs963528	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9887834	0.81[EUR][1000 genomes]
rs9887940	0.81[EUR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57123000-57141800	Weak transcription	Hela-S3	cervix
3	chr1:57123000-57142000	Weak transcription	A549	lung
4	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
6	chr1:57129800-57152200	Weak transcription	Psoas Muscle	Psoas
7	chr1:57135200-57140600	Enhancers	Fetal Heart	heart
8	chr1:57135400-57142000	Weak transcription	Left Ventricle	heart
9	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57136200-57140000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:57136200-57161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:57136800-57139800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:57137000-57141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:57139000-57139200	Enhancers	HepG2	liver

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