Variant report

Variant	rs12149254
Chromosome Location	chr16:71458851-71458852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12325234	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12444212	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12448992	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12918320	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12919092	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12922597	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12922830	0.88[EUR][1000 genomes]
rs12934168	1.00[ASN][1000 genomes]
rs17343777	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033251	0.91[AFR][1000 genomes]
rs34400718	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35166226	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499520	0.98[EUR][1000 genomes]
rs66778248	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054221	1.00[ASN][1000 genomes]
rs8060176	1.00[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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12149254	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71446800-71459600	Weak transcription	Spleen	Spleen
2	chr16:71457000-71461000	Weak transcription	Right Atrium	heart
3	chr16:71458400-71459600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:71458800-71459200	Bivalent Enhancer	HepG2	liver
5	chr16:71458800-71459400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr16:71458800-71459600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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