Variant report

Variant	rs438914
Chromosome Location	chr17:63143763-63143764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs167262	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2585860	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299821	0.85[AFR][1000 genomes]
rs299822	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299824	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821848	1.00[ASN][1000 genomes]
rs419526	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451403	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1009898	chr17:63135734-63146723	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:63135800-63146800	Weak transcription	Thymus	Thymus
3	chr17:63138600-63151200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:63141000-63175200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:63142800-63143800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr17:63142800-63144800	Enhancers	Brain Hippocampus Middle	brain
7	chr17:63143000-63143800	Enhancers	Brain Anterior Caudate	brain
8	chr17:63143000-63147000	Enhancers	GM12878-XiMat	blood
9	chr17:63143400-63144600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:63143600-63146400	Weak transcription	Fetal Thymus	thymus
11	chr17:63143600-63148200	Weak transcription	Lung	lung
12	chr17:63143600-63152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:63143600-63169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	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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