Variant report

Variant	rs6945492
Chromosome Location	chr7:38719465-38719466
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10244270	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10259530	0.82[ASN][1000 genomes]
rs10951569	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11981077	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11984238	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12701649	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17171431	0.84[ASN][1000 genomes]
rs2116666	0.84[EUR][1000 genomes]
rs2392593	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2392594	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6462857	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6944287	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6945629	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6977813	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6977993	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6978500	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6978759	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73695816	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv887965	chr7:38706384-38793243	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3441005	chr7:38719394-38719608	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6945492	DPY19L2P1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38696000-38726000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:38714000-38721800	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:38717600-38721000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:38719000-38719600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:38719000-38720000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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