Variant report

Variant	rs1698757
Chromosome Location	chr12:86533749-86533750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10858411	1.00[CHB][hapmap]
rs1097997	1.00[CHB][hapmap]
rs11117189	1.00[CHB][hapmap]
rs1389292	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1463750	1.00[CHB][hapmap]
rs1493414	1.00[CHB][hapmap]
rs1532263	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1689364	1.00[CHB][hapmap]
rs2452808	1.00[CHB][hapmap]
rs2471565	1.00[CHB][hapmap]
rs6538021	1.00[ASN][1000 genomes]
rs6538027	1.00[CHB][hapmap]
rs7312245	1.00[CHB][hapmap]
rs839094	1.00[ASN][1000 genomes]
rs839099	1.00[CHB][hapmap]
rs839100	1.00[CHB][hapmap]
rs839106	1.00[CHB][hapmap]
rs839107	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839109	1.00[CHB][hapmap]
rs839112	1.00[ASN][1000 genomes]
rs839113	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839114	1.00[CHB][hapmap]
rs839115	1.00[CHB][hapmap]
rs839116	1.00[CHB][hapmap]
rs839118	0.96[CEU][hapmap]
rs839119	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs839120	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs839123	0.96[CEU][hapmap]
rs839124	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs839128	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs839134	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839137	0.92[CEU][hapmap]
rs839138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839139	1.00[CHB][hapmap]
rs839147	1.00[CHB][hapmap]
rs839182	0.96[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs839183	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs839185	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839186	1.00[ASN][1000 genomes]
rs839188	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839191	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844437	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs858213	1.00[CHB][hapmap]
rs865722	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs866893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs1698757	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	chr12:86531800-86534200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:86532800-86538000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:86533000-86534000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:86533600-86533800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:86533600-86533800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:86533600-86533800	Enhancers	HSMM	muscle

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