Variant report

Variant	rs12542037
Chromosome Location	chr8:10758496-10758497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10090444	0.89[EUR][1000 genomes]
rs10096381	0.84[CEU][hapmap]
rs10107145	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11250092	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11250093	0.92[CEU][hapmap]
rs11250094	0.83[CEU][hapmap]
rs11783247	0.88[CEU][hapmap]
rs12546366	0.84[CEU][hapmap]
rs34741518	0.82[EUR][1000 genomes]
rs4073948	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4240673	0.92[CEU][hapmap]
rs4841457	0.84[EUR][1000 genomes]
rs4841465	0.81[CEU][hapmap]
rs6984496	0.92[CEU][hapmap]
rs6985109	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs7016385	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7823296	0.84[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12542037	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs12542037	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs12542037	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10753000-10763600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:10754200-10762000	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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