Variant report

Variant	rs9488310
Chromosome Location	chr6:114352630-114352631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1031799	1.00[AMR][1000 genomes]
rs1031802	1.00[AMR][1000 genomes]
rs13437352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1462383	1.00[AMR][1000 genomes]
rs1841744	1.00[AMR][1000 genomes]
rs1903679	1.00[AMR][1000 genomes]
rs2615509	1.00[AMR][1000 genomes]
rs2615527	1.00[AMR][1000 genomes]
rs2615528	1.00[AMR][1000 genomes]
rs2753885	1.00[AMR][1000 genomes]
rs2810185	1.00[AMR][1000 genomes]
rs2810186	1.00[AMR][1000 genomes]
rs2810192	1.00[AMR][1000 genomes]
rs2810193	1.00[AMR][1000 genomes]
rs2810194	1.00[AMR][1000 genomes]
rs2810197	1.00[AMR][1000 genomes]
rs28679593	1.00[AMR][1000 genomes]
rs352069	1.00[AMR][1000 genomes]
rs352072	1.00[AMR][1000 genomes]
rs352076	1.00[AMR][1000 genomes]
rs352088	1.00[AMR][1000 genomes]
rs352089	1.00[AMR][1000 genomes]
rs476354	1.00[AMR][1000 genomes]
rs508935	1.00[AMR][1000 genomes]
rs569246	1.00[AMR][1000 genomes]
rs574054	1.00[AMR][1000 genomes]
rs612475	1.00[AMR][1000 genomes]
rs9481401	1.00[AMR][1000 genomes]
rs9481414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9488287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114346400-114360800	Weak transcription	HSMM	muscle
2	chr6:114351200-114352800	Enhancers	HepG2	liver
3	chr6:114351400-114353400	Enhancers	Aorta	Aorta
4	chr6:114351400-114365200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:114352000-114353400	Enhancers	HSMMtube	muscle
6	chr6:114352200-114353000	Enhancers	Brain Cingulate Gyrus	brain
7	chr6:114352200-114355400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:114352400-114352800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr6:114352600-114352800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr6:114352600-114353000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr6:114352600-114353200	Enhancers	Brain Angular Gyrus	brain

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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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