Variant report

Variant	rs4871389
Chromosome Location	chr8:124581213-124581214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17254013	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4529453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871384	1.00[JPT][hapmap]
rs4871385	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4871387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871388	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs62518431	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62518436	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520865	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62520872	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62521293	0.94[AFR][1000 genomes]
rs7821824	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7835433	0.84[AFR][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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871389	TRMT12	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124575600-124598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124578800-124582800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124580600-124581400	Enhancers	Placenta	Placenta
4	chr8:124580600-124581400	Enhancers	Right Atrium	heart
5	chr8:124580600-124581600	Enhancers	Fetal Kidney	kidney
6	chr8:124580600-124582000	Enhancers	Fetal Muscle Leg	muscle
7	chr8:124580600-124582400	Enhancers	Psoas Muscle	Psoas
8	chr8:124580800-124581400	Enhancers	Adipose Nuclei	Adipose
9	chr8:124580800-124581600	Enhancers	Fetal Heart	heart
10	chr8:124580800-124581600	Enhancers	HUVEC	blood vessel
11	chr8:124581000-124581400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:124581000-124581400	Enhancers	Esophagus	oesophagus
13	chr8:124581000-124581400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:124581000-124581400	Enhancers	Left Ventricle	heart
15	chr8:124581000-124581400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:124581200-124581400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:124581200-124581400	Enhancers	Stomach Smooth Muscle	stomach
18	chr8:124581200-124581400	Enhancers	HSMMtube	muscle

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Input of quick search could be:

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

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