Variant report

Variant	rs12548130
Chromosome Location	chr8:52558395-52558396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10097683	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10102654	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10105608	0.83[AFR][1000 genomes]
rs10958285	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958291	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10958293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958294	0.96[ASN][1000 genomes]
rs11781376	0.94[ASN][1000 genomes]
rs11782339	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677123	0.97[ASN][1000 genomes]
rs13251959	0.82[ASN][1000 genomes]
rs13264256	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13265125	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs13279418	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916673	0.94[ASN][1000 genomes]
rs28492012	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34228216	0.86[ASN][1000 genomes]
rs34276635	0.94[ASN][1000 genomes]
rs36070314	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4291264	0.94[ASN][1000 genomes]
rs4469447	0.96[ASN][1000 genomes]
rs4873199	0.94[ASN][1000 genomes]
rs4873568	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981117	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981313	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987346	0.96[ASN][1000 genomes]
rs6995555	0.93[ASN][1000 genomes]
rs6998137	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7000785	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007297	0.92[ASN][1000 genomes]
rs7823666	0.96[ASN][1000 genomes]
rs7831588	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836565	0.96[ASN][1000 genomes]
rs7845169	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9643785	0.94[ASN][1000 genomes]
rs9650178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12548130	LOC115294	cis	multi-tissue	Pritchard
rs12548130	PCMTD1	cis	brain	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52557400-52559600	Enhancers	Left Ventricle	heart
2	chr8:52557400-52561200	Enhancers	Fetal Heart	heart
3	chr8:52557600-52558400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:52557600-52559600	Enhancers	Right Atrium	heart
5	chr8:52557600-52560200	Enhancers	Ovary	ovary
6	chr8:52557800-52558400	Weak transcription	Psoas Muscle	Psoas
7	chr8:52557800-52560200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:52558000-52559000	Weak transcription	Right Ventricle	heart
9	chr8:52558000-52560600	Enhancers	Skeletal Muscle Male	skeletal muscle

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