Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10888997	0.83[ASN][1000 genomes]
rs10889004	0.81[EUR][1000 genomes]
rs10889007	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11206883	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11206887	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12032377	0.80[ASN][1000 genomes]
rs12073253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2404990	0.80[ASN][1000 genomes]
rs2746340	0.96[AFR][1000 genomes]
rs2746343	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2746355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2796516	0.99[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2796520	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2796522	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2796528	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4912214	0.83[ASN][1000 genomes]
rs4912407	0.81[EUR][1000 genomes]
rs56022783	0.80[EUR][1000 genomes]
rs72666493	0.94[AFR][1000 genomes]
rs72666495	0.96[AFR][1000 genomes]
rs7553623	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57120000-57126600	Weak transcription	Right Ventricle	heart
2	chr1:57120000-57132800	Weak transcription	Right Atrium	heart
3	chr1:57121600-57125400	Weak transcription	Aorta	Aorta
4	chr1:57122400-57129200	Weak transcription	Psoas Muscle	Psoas
5	chr1:57122800-57125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:57122800-57125400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:57122800-57126600	Weak transcription	Left Ventricle	heart
8	chr1:57122800-57128600	Weak transcription	HepG2	liver
9	chr1:57122800-57169600	Weak transcription	Ovary	ovary
10	chr1:57123000-57131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:57123000-57141800	Weak transcription	Hela-S3	cervix
12	chr1:57123000-57142000	Weak transcription	A549	lung
13	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:57123400-57124400	Enhancers	Fetal Heart	heart
15	chr1:57124000-57124200	Enhancers	Skeletal Muscle Male	skeletal muscle

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