Variant report

Variant	rs1382896
Chromosome Location	chr5:5089229-5089230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10077722	0.84[AMR][1000 genomes]
rs1021761	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1021762	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1021763	0.99[EUR][1000 genomes]
rs10474784	0.88[AMR][1000 genomes]
rs10475281	0.81[AMR][1000 genomes]
rs1158328	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12654635	0.89[CEU][hapmap];0.91[AMR][1000 genomes]
rs1351287	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1382898	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1501638	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1501639	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs156252	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs172016	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs172050	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1812836	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1818107	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs182116	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1842240	0.84[AMR][1000 genomes]
rs2008213	0.99[EUR][1000 genomes]
rs2008214	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2015936	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2015937	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2619809	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2619814	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2652053	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2652054	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2652055	0.96[EUR][1000 genomes]
rs2652057	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2652058	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2652059	0.99[EUR][1000 genomes]
rs2652060	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs270628	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs270629	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270631	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270632	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270633	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270634	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs270635	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270636	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270637	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270638	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270639	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs270641	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs270644	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs272183	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs272202	0.99[EUR][1000 genomes]
rs272203	0.99[EUR][1000 genomes]
rs272204	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4701671	0.83[AMR][1000 genomes]
rs697720	0.85[AMR][1000 genomes]
rs814788	0.81[AMR][1000 genomes]
rs899552	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs899553	0.99[EUR][1000 genomes]
rs899554	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs899555	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs899556	0.99[EUR][1000 genomes]
rs905153	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs905154	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs970529	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs977341	0.81[AMR][1000 genomes];0.99[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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised 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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv10660	chr5:5088517-5095759	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5089000-5089600	Bivalent/Poised TSS	HSMMtube	muscle

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