Variant report

Variant	rs11068428
Chromosome Location	chr12:117693817-117693818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1047735	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774910	0.82[EUR][1000 genomes]
rs10850804	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10850805	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11068426	0.91[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006789	0.80[EUR][1000 genomes]
rs2291908	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293046	0.81[EUR][1000 genomes]
rs3741476	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7959232	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs904658	0.80[CEU][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs9658420	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9658498	0.80[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1051681	chr12:117692761-117720185	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11068428	SRRM4	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
3	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:117674800-117706600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:117687400-117695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:117689600-117696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:117691000-117697400	Strong transcription	NHEK	skin
8	chr12:117693600-117694200	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:117693600-117694600	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:117693800-117698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:117693800-117715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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