Variant report

Variant	rs16866992
Chromosome Location	chr2:180654554-180654555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1139	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs12052744	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12052765	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12053119	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12465379	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12466207	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12467122	1.00[YRI][hapmap]
rs12472888	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12473571	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes]
rs1385972	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1533384	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs16866963	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes]
rs16866968	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs16866986	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16866987	0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs16866989	0.92[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs16866991	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs28404240	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs356407	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs55728092	0.81[ASN][1000 genomes]
rs57390308	0.85[EUR][1000 genomes]
rs58217303	0.91[EUR][1000 genomes]
rs746701	1.00[YRI][hapmap]
rs7574345	0.81[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7577307	0.85[CEU][hapmap]
rs7592797	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7607561	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.95[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180653600-180655400	Weak transcription	K562	blood
2	chr2:180654400-180655600	Enhancers	Skeletal Muscle Male	skeletal muscle

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