Variant report

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

rs_ID	r²[population]
rs10888981	0.85[EUR][1000 genomes]
rs1418521	0.89[EUR][1000 genomes]
rs17114100	0.89[EUR][1000 genomes]
rs17114110	0.89[EUR][1000 genomes]
rs17114113	0.89[EUR][1000 genomes]
rs17114126	0.89[EUR][1000 genomes]
rs17114127	0.89[EUR][1000 genomes]
rs17114133	0.84[EUR][1000 genomes]
rs55927525	0.89[EUR][1000 genomes]
rs59475580	0.89[EUR][1000 genomes]
rs72664369	0.89[EUR][1000 genomes]
rs72664380	0.89[EUR][1000 genomes]
rs72664390	0.89[EUR][1000 genomes]
rs72664391	0.89[EUR][1000 genomes]
rs72664392	0.89[EUR][1000 genomes]
rs72664395	0.89[EUR][1000 genomes]
rs72666445	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72666448	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72666450	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72666481	0.89[EUR][1000 genomes]
rs72666484	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72666485	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72666490	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72666498	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72668305	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72668306	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72668308	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72668309	0.83[ASN][1000 genomes]
rs72668317	0.83[ASN][1000 genomes]
rs72668319	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72668321	0.83[ASN][1000 genomes]
rs72668325	0.83[ASN][1000 genomes]
rs72668327	0.81[AMR][1000 genomes];0.83[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	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:11 , 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	chr1:57132800-57136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:57133000-57136800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:57135200-57140600	Enhancers	Fetal Heart	heart
10	chr1:57135400-57142000	Weak transcription	Left Ventricle	heart
11	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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