Variant report

Variant	rs59349147
Chromosome Location	chr17:45289095-45289096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11570481	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11570495	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11570513	0.82[ASN][1000 genomes]
rs11570548	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16941626	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16941628	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16941635	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16941671	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1986817	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55706273	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55887846	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56287938	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs717162	0.93[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs59349147	RPRML	cis	Adipose Subcutaneous	GTEx
rs59349147	MYL4	cis	lung	GTEx
rs59349147	MYL4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45283000-45289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45284400-45293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:45286200-45289200	Active TSS	Fetal Heart	heart
4	chr17:45286200-45290800	Active TSS	Right Atrium	heart
5	chr17:45286600-45289800	Weak transcription	GM12878-XiMat	blood
6	chr17:45286600-45296200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:45287000-45294200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:45288000-45289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:45288000-45290400	Active TSS	Fetal Muscle Trunk	muscle
10	chr17:45288000-45290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:45288400-45289800	Weak transcription	Placenta	Placenta
12	chr17:45288400-45290400	Weak transcription	Psoas Muscle	Psoas
13	chr17:45288400-45290400	Active TSS	HSMMtube	muscle
14	chr17:45288400-45302000	Weak transcription	HSMM	muscle
15	chr17:45288600-45289200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
16	chr17:45288600-45296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:45289000-45289600	Enhancers	K562	blood

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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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