Variant report

Variant	rs17134597
Chromosome Location	chr5:111811579-111811580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17134595	0.82[AFR][1000 genomes]
rs17134619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134621	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214243	1.00[AMR][1000 genomes]
rs73214250	1.00[AMR][1000 genomes]
rs73214252	1.00[AMR][1000 genomes]
rs73214255	1.00[AMR][1000 genomes]
rs73222155	0.82[AFR][1000 genomes]
rs73222163	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73222167	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111809800-111813000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:111810000-111815200	Weak transcription	HUVEC	blood vessel
3	chr5:111810800-111812200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:111810800-111812200	Enhancers	Brain Anterior Caudate	brain
5	chr5:111810800-111812400	Enhancers	Brain Substantia Nigra	brain
6	chr5:111811000-111811600	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:111811000-111811800	Enhancers	Brain Angular Gyrus	brain
8	chr5:111811000-111811800	Enhancers	Brain Germinal Matrix	brain
9	chr5:111811000-111811800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:111811000-111812200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:111811200-111811600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:111811200-111812000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:111811200-111812000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:111811200-111812400	Enhancers	HMEC	breast
15	chr5:111811400-111811800	Enhancers	Fetal Kidney	kidney
16	chr5:111811400-111812000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr5:111811400-111812200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:111811400-111812200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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