Variant report

Variant	rs10042394
Chromosome Location	chr5:54120706-54120707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10036257	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036606	1.00[ASN][1000 genomes]
rs10039924	0.89[ASN][1000 genomes]
rs10042288	1.00[ASN][1000 genomes]
rs10042495	1.00[ASN][1000 genomes]
rs10043408	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10044938	0.93[AFR][1000 genomes]
rs10045175	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045765	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045790	0.89[ASN][1000 genomes]
rs10050561	0.88[ASN][1000 genomes]
rs10053168	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10057871	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058571	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058862	1.00[ASN][1000 genomes]
rs10058905	0.82[AFR][1000 genomes]
rs10061958	0.82[ASN][1000 genomes]
rs10066294	0.98[ASN][1000 genomes]
rs10066622	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066683	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10068073	0.88[ASN][1000 genomes]
rs10071183	0.89[ASN][1000 genomes]
rs10073662	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10073721	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10434559	0.88[ASN][1000 genomes]
rs10461588	0.97[ASN][1000 genomes]
rs10471923	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10805463	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10805468	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805469	0.98[ASN][1000 genomes]
rs10940427	0.94[ASN][1000 genomes]
rs10940428	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950757	0.86[ASN][1000 genomes]
rs11952681	0.96[ASN][1000 genomes]
rs11959080	0.88[ASN][1000 genomes]
rs12514244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515327	0.98[ASN][1000 genomes]
rs12520494	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12522199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155441	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161386	0.96[ASN][1000 genomes]
rs13161718	0.96[ASN][1000 genomes]
rs13167527	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171964	0.96[ASN][1000 genomes]
rs13173669	1.00[ASN][1000 genomes]
rs13180287	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186455	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13186826	1.00[ASN][1000 genomes]
rs35922886	0.90[AFR][1000 genomes]
rs4074332	0.89[CEU][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs4242044	0.89[ASN][1000 genomes]
rs4242045	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242046	0.98[ASN][1000 genomes]
rs4242047	0.98[ASN][1000 genomes]
rs4242048	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4282277	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4289528	0.98[ASN][1000 genomes]
rs4290968	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4292417	0.82[ASN][1000 genomes]
rs4298212	0.88[ASN][1000 genomes]
rs4320207	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4336310	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4336311	0.96[ASN][1000 genomes]
rs4356994	0.89[ASN][1000 genomes]
rs4362906	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437335	0.96[ASN][1000 genomes]
rs4451013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4451014	0.96[ASN][1000 genomes]
rs4457032	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4464652	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4498213	0.88[ASN][1000 genomes]
rs4505913	0.88[ASN][1000 genomes]
rs4519880	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527555	1.00[ASN][1000 genomes]
rs4527556	1.00[ASN][1000 genomes]
rs4582235	0.96[ASN][1000 genomes]
rs4591702	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610422	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645296	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4865586	0.83[JPT][hapmap]
rs4865587	0.85[EUR][1000 genomes]
rs4865870	0.88[ASN][1000 genomes]
rs4865872	0.89[ASN][1000 genomes]
rs4865873	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4865874	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4865875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865876	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4865877	0.96[ASN][1000 genomes]
rs59664922	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62355005	0.80[AFR][1000 genomes]
rs6450248	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6450251	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450252	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450253	1.00[ASN][1000 genomes]
rs6860729	0.88[ASN][1000 genomes]
rs6860824	0.83[JPT][hapmap]
rs6863705	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6867867	0.89[ASN][1000 genomes]
rs6887578	0.96[ASN][1000 genomes]
rs6891667	0.86[EUR][1000 genomes]
rs6892315	0.89[ASN][1000 genomes]
rs6899052	0.97[ASN][1000 genomes]
rs73126822	0.82[ASN][1000 genomes]
rs73126828	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73126830	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7446423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7446869	0.96[ASN][1000 genomes]
rs7448996	0.86[EUR][1000 genomes]
rs7726707	0.82[ASN][1000 genomes]
rs7728303	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728418	0.82[ASN][1000 genomes]
rs7731103	0.97[ASN][1000 genomes]
rs9292072	0.82[ASN][1000 genomes]
rs9292073	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9292074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687636	1.00[ASN][1000 genomes]
rs9968754	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54115400-54121200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:54116000-54121000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:54117200-54138000	Weak transcription	Aorta	Aorta
4	chr5:54117600-54126800	Weak transcription	NHLF	lung
5	chr5:54117800-54121200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:54118000-54126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:54118000-54128600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:54118400-54121000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:54118600-54121200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:54118600-54123200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:54118600-54129200	Weak transcription	Placenta	Placenta
12	chr5:54119600-54121800	Enhancers	Osteobl	bone
13	chr5:54119800-54120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:54119800-54122400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:54120600-54121600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:54120600-54121800	Enhancers	NHDF-Ad	bronchial

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