Variant report

Variant	rs1668357
Chromosome Location	chr7:38004406-38004407
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12701600	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1376258	0.91[AFR][1000 genomes]
rs1376260	0.94[EUR][1000 genomes]
rs1376261	0.94[EUR][1000 genomes]
rs1450849	0.93[EUR][1000 genomes]
rs1450850	0.94[EUR][1000 genomes]
rs1616485	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1619560	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1621407	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1668347	0.91[AFR][1000 genomes]
rs1668348	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1668350	0.89[AFR][1000 genomes]
rs1668353	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1668354	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1668356	0.95[AFR][1000 genomes]
rs1668358	0.95[AFR][1000 genomes]
rs1668361	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1668362	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1668363	0.94[EUR][1000 genomes]
rs1717732	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1717737	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1717741	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1717742	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1717743	0.91[AFR][1000 genomes]
rs1717744	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1823522	0.94[EUR][1000 genomes]
rs1901197	0.94[EUR][1000 genomes]
rs1993055	0.94[EUR][1000 genomes]
rs2167267	0.91[EUR][1000 genomes]
rs2246953	0.91[EUR][1000 genomes]
rs2598084	0.95[AFR][1000 genomes]
rs2598085	0.91[AFR][1000 genomes]
rs2598086	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2598087	0.95[AFR][1000 genomes]
rs2598088	0.95[AFR][1000 genomes]
rs2598089	0.93[AFR][1000 genomes]
rs2598090	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2598092	0.84[AFR][1000 genomes]
rs2598093	0.94[EUR][1000 genomes]
rs2722278	0.94[EUR][1000 genomes]
rs2722279	0.94[EUR][1000 genomes]
rs2722283	0.94[EUR][1000 genomes]
rs2722287	0.94[EUR][1000 genomes]
rs2722288	0.94[EUR][1000 genomes]
rs2722296	0.95[AFR][1000 genomes]
rs4723719	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs976798	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8074	chr7:37865340-38210087	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Myopia (pathological)	23049088	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:37992200-38017600	Weak transcription	Ovary	ovary
2	chr7:37992600-38026800	Weak transcription	Pancreas	Pancrea
3	chr7:37993000-38007600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:37993800-38007400	Weak transcription	A549	lung
5	chr7:37997600-38010600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:37997800-38005000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:38004400-38012400	Weak transcription	Aorta	Aorta

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