Variant report

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

rs_ID	r²[population]
rs10789035	0.82[ASN][1000 genomes]
rs10888992	0.81[ASN][1000 genomes]
rs10888993	0.82[ASN][1000 genomes]
rs10889000	0.85[ASN][1000 genomes]
rs10889005	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11206878	0.80[ASN][1000 genomes]
rs11206881	0.85[ASN][1000 genomes]
rs11206882	0.83[ASN][1000 genomes]
rs12073253	0.81[EUR][1000 genomes]
rs1539382	0.80[ASN][1000 genomes]
rs2404988	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2746347	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2746352	0.81[EUR][1000 genomes]
rs2746355	0.81[EUR][1000 genomes]
rs2796518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4399186	0.85[ASN][1000 genomes]
rs4912407	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56022783	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6588640	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74073774	1.00[ASN][1000 genomes]
rs857152	0.95[AMR][1000 genomes];0.87[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: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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