Variant report

Variant	rs9792278
Chromosome Location	chr8:52430803-52430804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10097136	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10109203	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10635094	0.85[ASN][1000 genomes]
rs10958273	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11785786	0.87[AFR][1000 genomes]
rs2915453	0.86[ASN][1000 genomes]
rs2979119	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3097708	0.86[ASN][1000 genomes]
rs35377291	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35889669	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4598242	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55677072	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6995112	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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 target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv3325193	chr8:52425482-52432306	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv890896	chr8:52428061-52454721	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9792278	PRKDC	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52426000-52433000	Weak transcription	Left Ventricle	heart
2	chr8:52428000-52437800	Weak transcription	Fetal Kidney	kidney
3	chr8:52428200-52432400	Weak transcription	Right Atrium	heart
4	chr8:52430400-52431400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:52430600-52437600	Weak transcription	Brain Germinal Matrix	brain
6	chr8:52430800-52431400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:52430800-52431800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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