Variant report

Variant	rs2185185
Chromosome Location	chr6:132727893-132727894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1000848	0.99[ASN][1000 genomes]
rs1000849	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660839	0.98[ASN][1000 genomes]
rs12663764	0.99[ASN][1000 genomes]
rs1338934	0.86[ASN][1000 genomes]
rs1338936	0.86[ASN][1000 genomes]
rs1338937	0.86[ASN][1000 genomes]
rs1338938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538307	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153175	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2211095	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2327242	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327243	0.90[ASN][1000 genomes]
rs2327244	0.94[ASN][1000 genomes]
rs2876186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876187	0.96[ASN][1000 genomes]
rs4377800	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4489176	0.96[ASN][1000 genomes]
rs4515403	0.96[ASN][1000 genomes]
rs4529319	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4897580	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6569796	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6900501	0.85[ASN][1000 genomes]
rs6901240	0.81[ASN][1000 genomes]
rs6901661	0.81[ASN][1000 genomes]
rs6901691	0.81[ASN][1000 genomes]
rs6906574	0.83[ASN][1000 genomes]
rs6921325	0.96[ASN][1000 genomes]
rs6922502	0.99[ASN][1000 genomes]
rs6923916	0.99[ASN][1000 genomes]
rs6929072	0.83[ASN][1000 genomes]
rs6937815	0.96[ASN][1000 genomes]
rs6938427	0.96[ASN][1000 genomes]
rs6942368	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73776207	0.96[ASN][1000 genomes]
rs7450274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742513	0.83[AFR][1000 genomes]
rs7743007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743456	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750935	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7754992	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7757469	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7757641	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7759787	0.86[ASN][1000 genomes]
rs7761178	0.85[ASN][1000 genomes]
rs7770281	0.99[ASN][1000 genomes]
rs7770326	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8180540	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375888	0.96[ASN][1000 genomes]
rs9385605	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388993	0.86[ASN][1000 genomes]
rs9388994	0.99[ASN][1000 genomes]
rs9388995	0.96[ASN][1000 genomes]
rs9399023	0.98[ASN][1000 genomes]
rs9399027	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399028	0.84[ASN][1000 genomes]
rs9402405	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483442	0.85[ASN][1000 genomes]
rs9493308	0.86[ASN][1000 genomes]
rs9493309	0.86[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	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2185185	MOXD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132725200-132734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:132726400-132734200	Weak transcription	Fetal Kidney	kidney
3	chr6:132726600-132733600	Weak transcription	NHDF-Ad	bronchial
4	chr6:132727000-132728200	Enhancers	GM12878-XiMat	blood
5	chr6:132727200-132733800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:132727600-132732200	Weak transcription	Osteobl	bone
7	chr6:132727800-132732200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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