Variant report

Variant	rs59253244
Chromosome Location	chr5:7928357-7928358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10066017	0.83[EUR][1000 genomes]
rs10512930	0.83[EUR][1000 genomes]
rs10520873	0.82[EUR][1000 genomes]
rs12186809	0.87[EUR][1000 genomes]
rs16879418	0.83[EUR][1000 genomes]
rs16879420	0.83[EUR][1000 genomes]
rs17267793	0.82[EUR][1000 genomes]
rs3822441	0.82[EUR][1000 genomes]
rs55872008	0.83[EUR][1000 genomes]
rs56149723	0.82[EUR][1000 genomes]
rs57240487	0.82[EUR][1000 genomes]
rs57989551	0.82[EUR][1000 genomes]
rs62342552	0.82[EUR][1000 genomes]
rs62342558	0.83[EUR][1000 genomes]
rs62345660	0.84[EUR][1000 genomes]
rs67514505	0.82[EUR][1000 genomes]
rs67902045	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv508345	chr5:7890892-7933471	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv4706	chr5:7917701-7956246	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59253244	MTRR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7925400-7928400	Enhancers	Osteobl	bone
2	chr5:7926400-7928400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:7927600-7928400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:7927800-7928400	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:7927800-7928400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr5:7927800-7929200	Enhancers	Fetal Intestine Large	intestine
7	chr5:7928000-7928400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:7928200-7928400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:7928200-7928400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:7928200-7928400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:7928200-7928400	Enhancers	Brain Angular Gyrus	brain
12	chr5:7928200-7928400	Enhancers	Brain Substantia Nigra	brain
13	chr5:7928200-7928400	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:7928200-7928400	Enhancers	Fetal Intestine Small	intestine
15	chr5:7928200-7928600	Enhancers	Fetal Muscle Leg	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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