Variant report

Variant	rs4963576
Chromosome Location	chr12:24758490-24758491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1386640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1386642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1487653	1.00[EUR][1000 genomes]
rs1487659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1811606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2955480	1.00[AMR][1000 genomes]
rs2955488	1.00[AMR][1000 genomes]
rs2955489	1.00[AMR][1000 genomes]
rs2970414	1.00[AMR][1000 genomes]
rs2970416	1.00[AMR][1000 genomes]
rs2970421	1.00[AMR][1000 genomes]
rs3110019	1.00[AMR][1000 genomes]
rs3110020	1.00[AMR][1000 genomes]
rs3112129	1.00[AMR][1000 genomes]
rs3112130	1.00[AMR][1000 genomes]
rs3112131	1.00[AMR][1000 genomes]
rs3112132	1.00[EUR][1000 genomes]
rs4963578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4963585	1.00[AMR][1000 genomes]
rs6487392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300845	1.00[EUR][1000 genomes]
rs7307756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312721	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats 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
5	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24754400-24761000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:24754600-24761200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:24756000-24759200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:24758200-24758600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:24758200-24758600	Enhancers	Fetal Heart	heart
6	chr12:24758200-24758600	Enhancers	HSMM	muscle
7	chr12:24758400-24758800	Enhancers	Aorta	Aorta
8	chr12:24758400-24765000	Genic enhancers	Dnd41	blood

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