Variant report

Variant	rs1523589
Chromosome Location	chr18:30242590-30242591
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11081778	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1125317	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11875943	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12607749	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12957148	0.83[ASN][1000 genomes]
rs12961515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381681	0.82[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1511036	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1523580	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1523581	0.82[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1523582	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs1523584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1523585	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1523586	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1523587	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162418	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs162419	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs162420	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs162421	0.87[JPT][hapmap]
rs1846013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980034	0.82[CHB][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1980035	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1980036	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421639	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28417613	0.91[EUR][1000 genomes]
rs2901486	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs330296	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs330297	0.87[JPT][hapmap]
rs330298	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs330299	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs330301	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs330303	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs330304	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs330305	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs330330	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs330333	0.83[ASN][1000 genomes]
rs35555190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4344834	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs59707505	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7241043	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8092564	0.90[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.84[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	nsv909526	chr18:30124311-30259109	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1523589	DTNA	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30241400-30242600	Enhancers	NHEK	skin
2	chr18:30241600-30242600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:30241600-30242600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:30241600-30242600	Enhancers	HSMMtube	muscle
5	chr18:30241800-30242600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:30242000-30242600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr18:30242000-30242600	Enhancers	HMEC	breast
8	chr18:30242000-30242800	Enhancers	HSMM	muscle

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