Variant report

Variant	rs9463348
Chromosome Location	chr6:12991717-12991718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1223540	1.00[AMR][1000 genomes]
rs1223543	1.00[AMR][1000 genomes]
rs12332889	1.00[AMR][1000 genomes]
rs16873470	1.00[AMR][1000 genomes]
rs60044512	1.00[AMR][1000 genomes]
rs60196827	1.00[AMR][1000 genomes]
rs60885957	1.00[AMR][1000 genomes]
rs73362153	1.00[AMR][1000 genomes]
rs7745645	1.00[AMR][1000 genomes]
rs7771369	1.00[AMR][1000 genomes]
rs9296471	1.00[AMR][1000 genomes]
rs9296493	1.00[AMR][1000 genomes]
rs9296569	1.00[AMR][1000 genomes]
rs9463148	1.00[AMR][1000 genomes]
rs9463266	1.00[AMR][1000 genomes]
rs9472893	1.00[AMR][1000 genomes]
rs9473155	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12979600-13001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:12982600-13002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:12988400-12992200	Weak transcription	Fetal Heart	heart
4	chr6:12988800-13006000	Weak transcription	Aorta	Aorta
5	chr6:12989000-12991800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:12991600-12992600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:12991600-12992800	Weak transcription	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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