Variant report

Variant	rs10518383
Chromosome Location	chr4:122059420-122059421
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10446733	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10454795	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11945951	0.83[EUR][1000 genomes]
rs11947841	0.86[EUR][1000 genomes]
rs13101385	0.81[EUR][1000 genomes]
rs13102428	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13106137	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13107912	0.84[EUR][1000 genomes]
rs13108214	0.83[EUR][1000 genomes]
rs13108739	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118027	0.84[EUR][1000 genomes]
rs13118818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118913	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123960	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13124511	0.86[EUR][1000 genomes]
rs13124522	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13126929	0.85[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13129293	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13130152	0.83[EUR][1000 genomes]
rs13133184	0.82[EUR][1000 genomes]
rs13133221	0.83[EUR][1000 genomes]
rs13133584	0.88[EUR][1000 genomes]
rs13137539	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13138203	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150702	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13152687	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1511094	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17051290	0.83[EUR][1000 genomes]
rs17051320	0.83[EUR][1000 genomes]
rs17051321	0.83[EUR][1000 genomes]
rs1858291	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2068019	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513714	0.84[EUR][1000 genomes]
rs28530598	0.83[EUR][1000 genomes]
rs35971082	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36087391	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3817171	0.85[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6534254	0.83[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs66625249	0.84[EUR][1000 genomes]
rs6811411	0.83[EUR][1000 genomes]
rs6814480	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6818119	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6820363	0.88[EUR][1000 genomes]
rs6821331	1.00[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs6823283	0.85[EUR][1000 genomes]
rs6828327	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6829949	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6833114	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833755	0.81[ASN][1000 genomes]
rs6835790	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6839386	0.86[EUR][1000 genomes]
rs6839726	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855628	0.92[GIH][hapmap];0.91[TSI][hapmap]
rs6856825	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs867883	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs998327	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10518383	PRDM5	cis	cerebellum	SCAN
rs10518383	TNIP3	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122052000-122060400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:122058600-122061800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:122058600-122062200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr4:122058600-122062200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr4:122058600-122062800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:122058600-122063200	Enhancers	Osteobl	bone
7	chr4:122058600-122063800	Enhancers	Primary T cells from cord blood	blood
8	chr4:122058800-122063000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:122059000-122062200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr4:122059000-122062200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr4:122059200-122059600	Enhancers	NHLF	lung
12	chr4:122059200-122059800	Enhancers	GM12878-XiMat	blood
13	chr4:122059200-122061000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:122059200-122061600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:122059200-122061600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:122059200-122061600	Enhancers	Fetal Thymus	thymus
17	chr4:122059200-122061800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:122059200-122062000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr4:122059400-122060400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:122059400-122061800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:122059400-122063000	Enhancers	NHDF-Ad	bronchial

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