Variant report

Variant	rs6487392
Chromosome Location	chr12:24700688-24700689
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:24698828..24700700-chr12:24707231..24709312,2	K562	blood:

Extended variants
information (count: 31 )
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]
rs4963576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4963578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4963585	1.00[AMR][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:8 , 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	nsv832352	chr12:24534823-24736540	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv645	chr12:24683914-24723421	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24689200-24703800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:24691400-24703600	Weak transcription	Brain Anterior Caudate	brain
3	chr12:24694200-24703400	Weak transcription	Fetal Lung	lung
4	chr12:24694600-24700800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:24695200-24703800	Weak transcription	NHLF	lung
6	chr12:24695600-24702800	Weak transcription	Liver	Liver
7	chr12:24695600-24703200	Weak transcription	Adipose Nuclei	Adipose
8	chr12:24695600-24703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:24696400-24713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:24697800-24713800	Weak transcription	Placenta	Placenta
11	chr12:24698200-24706200	Weak transcription	Aorta	Aorta
12	chr12:24699600-24702400	Weak transcription	Ovary	ovary
13	chr12:24699800-24702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:24699800-24703000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:24699800-24703200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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