Variant report

Variant	rs12073392
Chromosome Location	chr1:222926678-222926679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12063226	0.83[EUR][1000 genomes]
rs12749296	0.84[ASN][1000 genomes]
rs2068814	0.88[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2378606	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378607	0.81[ASN][1000 genomes]
rs28654270	0.81[ASN][1000 genomes]
rs28765200	0.81[ASN][1000 genomes]
rs34885880	0.84[ASN][1000 genomes]
rs34992407	0.81[EUR][1000 genomes]
rs35300015	0.93[ASN][1000 genomes]
rs35806535	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35968825	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825253	0.84[ASN][1000 genomes]
rs61825254	0.81[ASN][1000 genomes]
rs61825259	0.81[ASN][1000 genomes]
rs6683071	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12073392	C1orf58	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222923000-222929000	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:222924800-222927600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:222924800-222927800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:222925200-222927600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:222925200-222928000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:222925600-222927000	Genic enhancers	Primary B cells from cord blood	blood
7	chr1:222925600-222927600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:222926000-222928200	Weak transcription	Stomach Mucosa	stomach

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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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