Variant report

Variant	rs56022783
Chromosome Location	chr1:57123114-57123115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10889000	0.82[ASN][1000 genomes]
rs10889004	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10889005	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11206881	0.82[ASN][1000 genomes]
rs11206882	0.81[ASN][1000 genomes]
rs12073253	0.80[EUR][1000 genomes]
rs2404988	0.93[ASN][1000 genomes]
rs2746347	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2746352	0.80[EUR][1000 genomes]
rs2746355	0.80[EUR][1000 genomes]
rs2796518	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4399186	0.82[ASN][1000 genomes]
rs4912407	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6588640	0.97[ASN][1000 genomes]
rs74073774	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs857152	0.93[AMR][1000 genomes];0.88[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:18 , 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	chr1:57122600-57124000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:57122800-57123200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:57122800-57123200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:57122800-57123400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:57122800-57123400	Weak transcription	Fetal Heart	heart
10	chr1:57122800-57125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:57122800-57125400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:57122800-57126600	Weak transcription	Left Ventricle	heart
13	chr1:57122800-57128600	Weak transcription	HepG2	liver
14	chr1:57122800-57169600	Weak transcription	Ovary	ovary
15	chr1:57123000-57131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:57123000-57141800	Weak transcription	Hela-S3	cervix
17	chr1:57123000-57142000	Weak transcription	A549	lung
18	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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