Variant report

Variant	rs518183
Chromosome Location	chr6:11528124-11528125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10807114	0.86[ASN][1000 genomes]
rs10807115	0.86[ASN][1000 genomes]
rs11751884	0.85[ASN][1000 genomes]
rs11755780	0.86[ASN][1000 genomes]
rs11756371	0.85[ASN][1000 genomes]
rs12192094	0.86[ASN][1000 genomes]
rs12198765	0.86[ASN][1000 genomes]
rs12198774	0.86[ASN][1000 genomes]
rs12198950	0.86[ASN][1000 genomes]
rs12200391	0.86[ASN][1000 genomes]
rs12200454	0.86[ASN][1000 genomes]
rs1923525	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025184	0.86[ASN][1000 genomes]
rs2025185	0.86[ASN][1000 genomes]
rs4711306	0.86[ASN][1000 genomes]
rs4713593	0.84[ASN][1000 genomes]
rs4713594	0.85[ASN][1000 genomes]
rs480684	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs486127	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs487729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs490327	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs493183	0.89[ASN][1000 genomes]
rs505839	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs528012	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs528087	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533319	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs562508	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs568867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs570714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs575164	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs588062	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs588948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs594164	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs601505	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609135	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs617157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs618573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs618998	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs620867	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs623024	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs671048	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6899820	0.82[EUR][1000 genomes]
rs6901328	0.86[ASN][1000 genomes]
rs6907796	0.86[ASN][1000 genomes]
rs6913697	0.84[ASN][1000 genomes]
rs6914420	0.84[ASN][1000 genomes]
rs6915153	0.84[ASN][1000 genomes]
rs6915366	0.84[ASN][1000 genomes]
rs6926422	0.86[EUR][1000 genomes]
rs6941011	0.86[ASN][1000 genomes]
rs6941700	0.84[ASN][1000 genomes]
rs9348892	0.84[ASN][1000 genomes]
rs9348895	0.86[ASN][1000 genomes]
rs9348896	0.86[ASN][1000 genomes]
rs9357154	0.86[ASN][1000 genomes]
rs9366806	0.86[ASN][1000 genomes]
rs9368728	0.80[ASN][1000 genomes]
rs9394117	0.86[ASN][1000 genomes]
rs9394123	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv600989	chr6:11509323-11581990	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs518183	TMEM170B	cis	Skin Sun Exposed Lower leg	GTEx
rs518183	TMEM170B	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11518600-11528200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:11522000-11536400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:11526800-11531600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:11527000-11532600	Weak transcription	Adipose Nuclei	Adipose
5	chr6:11527000-11537000	Weak transcription	Placenta	Placenta
6	chr6:11527400-11531000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:11527400-11531600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:11527400-11537200	Weak transcription	Gastric	stomach
9	chr6:11528000-11529000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:11528000-11530800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:11528000-11531200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:11528000-11536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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