Variant report

Variant	rs839182
Chromosome Location	chr12:86533284-86533285
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1698757	0.96[CEU][hapmap];0.85[YRI][hapmap]
rs839113	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs839118	0.92[CEU][hapmap]
rs839119	0.92[CEU][hapmap]
rs839120	0.92[CEU][hapmap]
rs839123	0.92[CEU][hapmap]
rs839124	0.92[CEU][hapmap]
rs839128	0.92[CEU][hapmap]
rs839137	0.89[CEU][hapmap]
rs839185	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs839188	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs839189	0.96[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs839191	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs865722	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs866893	0.96[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.99[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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv470311	chr12:86484366-86550783	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2753278	chr12:86522507-86555154	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs839182	MGAT4C	cis	Nerve Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86529800-86538800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:86530400-86538800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:86531600-86533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:86531800-86534200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:86532200-86533400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:86532800-86533600	Weak transcription	HSMM	muscle
7	chr12:86532800-86538000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:86533000-86534000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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