Variant report

Variant	rs7590488
Chromosome Location	chr2:12074453-12074454
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]
rs10520110	0.80[EUR][1000 genomes]
rs11901062	0.80[EUR][1000 genomes]
rs12614423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1440040	0.86[ASN][1000 genomes]
rs55925656	0.89[ASN][1000 genomes]
rs58851677	0.81[EUR][1000 genomes]
rs59883742	0.80[EUR][1000 genomes]
rs61152861	0.81[EUR][1000 genomes]
rs62115003	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62115005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62115038	0.81[EUR][1000 genomes]
rs62115039	0.80[EUR][1000 genomes]
rs62115042	0.92[EUR][1000 genomes]
rs6736037	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7564098	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599141	0.82[AMR][1000 genomes];0.96[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12071200-12078400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:12071200-12081200	Weak transcription	Right Atrium	heart
3	chr2:12072600-12084600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:12072800-12078000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:12073400-12075000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:12073400-12075000	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:12073800-12074800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:12074400-12084200	Weak transcription	GM12878-XiMat	blood

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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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