Variant report

Variant	rs12513002
Chromosome Location	chr4:128450491-128450492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128449705..128452234-chr4:128453227..128455144,2	K562	blood:
2	chr4:128449129..128451520-chr4:128453107..128455386,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10005550	0.87[ASN][1000 genomes]
rs10212983	0.88[ASN][1000 genomes]
rs11098926	0.84[ASN][1000 genomes]
rs11728212	0.88[ASN][1000 genomes]
rs11937218	1.00[ASN][1000 genomes]
rs12499018	1.00[ASN][1000 genomes]
rs12500373	0.91[ASN][1000 genomes]
rs12502458	0.98[ASN][1000 genomes]
rs12505420	0.92[ASN][1000 genomes]
rs12505574	1.00[ASN][1000 genomes]
rs12506112	0.92[ASN][1000 genomes]
rs12506317	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12508021	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12513073	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12513077	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1355927	0.89[ASN][1000 genomes]
rs1399215	0.84[ASN][1000 genomes]
rs1514301	0.84[ASN][1000 genomes]
rs1514312	0.87[ASN][1000 genomes]
rs1514313	0.88[ASN][1000 genomes]
rs1514314	0.88[ASN][1000 genomes]
rs1514315	0.88[ASN][1000 genomes]
rs17012484	0.98[ASN][1000 genomes]
rs17012500	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012503	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012525	0.88[ASN][1000 genomes]
rs2007243	0.88[ASN][1000 genomes]
rs2137866	0.91[ASN][1000 genomes]
rs56077955	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57872398	0.97[ASN][1000 genomes]
rs58348395	0.91[ASN][1000 genomes]
rs59695248	0.98[ASN][1000 genomes]
rs61143634	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6817788	0.82[ASN][1000 genomes]
rs72621856	0.91[ASN][1000 genomes]
rs72621859	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621860	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621861	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621862	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621863	0.89[ASN][1000 genomes]
rs72621865	0.87[ASN][1000 genomes]
rs72621866	0.88[ASN][1000 genomes]
rs72621867	0.88[ASN][1000 genomes]
rs72621868	0.88[ASN][1000 genomes]
rs72621869	0.88[ASN][1000 genomes]
rs72621870	0.88[ASN][1000 genomes]
rs72621871	0.88[ASN][1000 genomes]
rs72621872	0.87[ASN][1000 genomes]
rs7435603	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7653949	0.82[ASN][1000 genomes]
rs979051	0.82[ASN][1000 genomes]
rs9992141	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1015564	chr4:128394657-128506962	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017325	chr4:128408370-128509276	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv595387	chr4:128410916-128523964	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128449000-128450600	Enhancers	Fetal Heart	heart

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