Variant report

Variant	rs56002721
Chromosome Location	chr2:152431175-152431176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10497084	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11681877	0.84[ASN][1000 genomes]
rs12052998	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16830047	0.81[ASN][1000 genomes]
rs16830059	0.82[ASN][1000 genomes]
rs16830061	0.82[ASN][1000 genomes]
rs16830067	0.81[ASN][1000 genomes]
rs16830086	0.82[ASN][1000 genomes]
rs16830090	0.83[ASN][1000 genomes]
rs16830096	0.83[ASN][1000 genomes]
rs16830159	0.89[ASN][1000 genomes]
rs16830228	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993206	0.82[ASN][1000 genomes]
rs2288206	0.95[ASN][1000 genomes]
rs2288211	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35389145	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3732308	0.84[ASN][1000 genomes]
rs3732312	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233653	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4468813	0.82[ASN][1000 genomes]
rs4507102	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4664057	0.92[ASN][1000 genomes]
rs4664058	0.92[ASN][1000 genomes]
rs4664492	0.80[ASN][1000 genomes]
rs55917454	0.83[EUR][1000 genomes]
rs56224718	0.90[ASN][1000 genomes]
rs56258194	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56898485	0.80[ASN][1000 genomes]
rs57082978	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58037758	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58909595	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58996775	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59723161	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61254943	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62169384	0.80[ASN][1000 genomes]
rs62174707	0.84[ASN][1000 genomes]
rs6733645	0.82[ASN][1000 genomes]
rs6742953	0.82[ASN][1000 genomes]
rs7422009	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv1793381	chr2:152370040-152463631	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv10198	chr2:152370068-152463644	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv2974	chr2:152401495-152499455	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152409400-152437000	Weak transcription	Psoas Muscle	Psoas
2	chr2:152416200-152434400	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:152427000-152433800	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:152427400-152433600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:152429000-152433400	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:152429800-152434200	Strong transcription	HSMMtube	muscle

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