Variant report

Variant	rs12308575
Chromosome Location	chr12:86466551-86466552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506927	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506928	0.91[CEU][hapmap]
rs10506931	0.89[CEU][hapmap]
rs10779233	1.00[CEU][hapmap]
rs10863161	0.88[ASN][1000 genomes]
rs10863162	0.96[YRI][hapmap]
rs10863163	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs12298174	1.00[CEU][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12301701	0.95[YRI][hapmap]
rs12302272	1.00[ASN][1000 genomes]
rs12305255	0.83[CEU][hapmap]
rs12313444	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12321159	1.00[CEU][hapmap]
rs1389296	0.91[CEU][hapmap]
rs1502799	0.96[YRI][hapmap]
rs1502800	0.95[YRI][hapmap]
rs1552840	0.81[CEU][hapmap]
rs17284484	0.91[CEU][hapmap]
rs17284820	0.91[CEU][hapmap]
rs17285589	0.81[CEU][hapmap]
rs17357025	0.91[CEU][hapmap]
rs17357233	0.91[CEU][hapmap]
rs17357259	0.89[CEU][hapmap]
rs17357469	0.91[CEU][hapmap]
rs4586245	0.82[CEU][hapmap]
rs4842454	0.89[CEU][hapmap]
rs4842468	0.82[CEU][hapmap]
rs4842541	0.91[CEU][hapmap]
rs4842557	0.81[CEU][hapmap]
rs4842558	0.89[CEU][hapmap]
rs61931146	0.86[EUR][1000 genomes]
rs7136697	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7485285	0.96[YRI][hapmap]
rs7486522	1.00[CEU][hapmap]
rs7487426	0.90[CEU][hapmap]
rs7979846	0.81[CEU][hapmap]
rs8181635	0.92[YRI][hapmap]
rs865720	0.96[YRI][hapmap]
rs952851	0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv832476	chr12:86389751-86497122	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	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
4	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
5	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
6	esv3345033	chr12:86458294-86514745	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12308575	MGAT4C	cis	Nerve Tibial	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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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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