Variant report

Variant	rs12717797
Chromosome Location	chr1:91922567-91922568
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11799814	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12060889	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12758752	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1508586	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1508587	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1876592	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58884787	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6683272	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6683496	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71668074	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7513482	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7522651	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7526693	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526795	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526972	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7535665	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7540260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7542806	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7543080	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1005574	chr1:91913621-91923934	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv947496	chr1:91918272-91938103	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12717797	CDC7	cis	Skin Sun Exposed Lower leg	GTEx
rs12717797	CDC7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91921600-91923200	Active TSS	Fetal Kidney	kidney
2	chr1:91922000-91922600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr1:91922000-91923400	Enhancers	Fetal Intestine Large	intestine
4	chr1:91922200-91924200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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