Variant report

Variant	rs1464132
Chromosome Location	chr5:127120752-127120753
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1002214	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10044507	0.96[ASN][1000 genomes]
rs10066288	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10067219	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1067705	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1086479	0.92[EUR][1000 genomes]
rs1092294	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1213745	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13155734	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1616107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2673770	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6867166	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6878186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711361	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs711363	0.95[CEU][hapmap]
rs711364	0.95[CEU][hapmap]
rs711369	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7729013	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790829	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs790834	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs790839	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790840	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790841	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs796919	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs806464	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs810996	0.81[AMR][1000 genomes];0.92[EUR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127120000-127120800	Enhancers	HSMMtube	muscle
2	chr5:127120000-127121200	Enhancers	Fetal Muscle Leg	muscle
3	chr5:127120000-127121600	Enhancers	Fetal Heart	heart
4	chr5:127120000-127123000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:127120600-127121400	Enhancers	Duodenum Mucosa	Duodenum
6	chr5:127120600-127122200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:127120600-127122600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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