Variant report

Variant	rs6508747
Chromosome Location	chr19:38354119-38354120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10406856	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418133	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421572	1.00[CEU][hapmap];0.80[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422056	0.90[CHB][hapmap]
rs10426553	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10426712	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11083439	0.90[CHB][hapmap]
rs11668434	0.90[CHB][hapmap]
rs11668558	0.90[CHB][hapmap]
rs11672077	1.00[CHB][hapmap]
rs1643470	0.90[CHB][hapmap]
rs17306508	0.90[CHB][hapmap]
rs17306795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2160640	0.90[CHB][hapmap]
rs2382622	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs241937	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs241940	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs241941	0.90[CHB][hapmap]
rs241942	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs241948	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs241951	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35462777	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3752365	0.90[CHB][hapmap]
rs3894129	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs4482404	0.90[CHB][hapmap]
rs4802132	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4802133	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4802134	0.90[CHB][hapmap]
rs4802137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970469	0.83[ASN][1000 genomes]
rs56851463	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57268445	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508750	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs697433	0.89[CHB][hapmap]
rs7245957	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7253870	0.95[AFR][1000 genomes]
rs7254828	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs8100684	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101131	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8111400	0.90[CHB][hapmap]
rs833916	0.90[CHB][hapmap]
rs856302	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs861308	0.90[CHB][hapmap]
rs953370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]

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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1062040	chr19:38294465-38370456	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1832898	chr19:38341754-38362792	Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1825275	chr19:38341754-38376485	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6508747	DMPK	cis	parietal	SCAN
rs6508747	AC012309.5	cis	Heart Left Ventricle	GTEx
rs6508747	AC012309.5	cis	Artery Tibial	GTEx
rs6508747	AC012309.5	cis	Thyroid	GTEx
rs6508747	PHLDB3	cis	cerebellum	SCAN
rs6508747	PPP5C	cis	parietal	SCAN
rs6508747	ZNF226	cis	cerebellum	SCAN
rs6508747	PLEKHG2	cis	cerebellum	SCAN
rs6508747	CEACAM3	cis	parietal	SCAN
rs6508747	PAFAH1B3	cis	cerebellum	SCAN
rs6508747	IRGQ	cis	parietal	SCAN
rs6508747	AKT2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38347400-38356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:38347400-38358000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:38350600-38356800	Enhancers	Fetal Brain Male	brain
4	chr19:38353600-38355200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:38353600-38355400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:38353600-38355600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:38353600-38355800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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