Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1075693	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12427518	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1407751	0.94[ASN][1000 genomes]
rs1407752	0.91[ASN][1000 genomes]
rs1407753	0.91[ASN][1000 genomes]
rs17052824	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17052924	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1885849	0.89[ASN][1000 genomes]
rs2018272	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2181473	0.90[ASN][1000 genomes]
rs2408692	0.82[ASN][1000 genomes]
rs4243004	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4301922	0.91[ASN][1000 genomes]
rs4301923	0.91[ASN][1000 genomes]
rs4301924	0.91[ASN][1000 genomes]
rs4562966	0.91[ASN][1000 genomes]
rs4562967	0.91[ASN][1000 genomes]
rs5026013	0.89[ASN][1000 genomes]
rs57281475	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58811753	0.94[ASN][1000 genomes]
rs59849453	0.94[ASN][1000 genomes]
rs67378042	0.94[ASN][1000 genomes]
rs68176651	0.94[ASN][1000 genomes]
rs7320217	0.92[ASN][1000 genomes]
rs7323033	0.92[ASN][1000 genomes]
rs732949	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7334665	0.98[ASN][1000 genomes]
rs7337967	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9596729	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9596730	0.86[AFR][1000 genomes]
rs9652206	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53510400-53524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:53516600-53525600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:53517800-53523400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:53520400-53521800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:53521000-53521600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:53521000-53522800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr13:53521400-53521800	Enhancers	Spleen	Spleen
8	chr13:53521400-53522000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:53521400-53522200	Enhancers	Brain Substantia Nigra	brain
10	chr13:53521400-53522800	Enhancers	Brain Anterior Caudate	brain
11	chr13:53521400-53522800	Enhancers	Dnd41	blood
12	chr13:53521400-53522800	Enhancers	Monocytes-CD14+_RO01746	blood

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