Variant report

Variant	rs11043213
Chromosome Location	chr12:122291385-122291386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10840622	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10840624	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11043216	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11043217	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043218	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11043219	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11043220	0.93[EUR][1000 genomes]
rs11043223	0.92[EUR][1000 genomes]
rs11043225	0.92[EUR][1000 genomes]
rs12825161	0.91[EUR][1000 genomes]
rs1610041	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2167067	0.92[EUR][1000 genomes]
rs35599566	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35633723	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35892692	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6486780	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66611928	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68055743	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7969671	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3420303	chr12:122287669-122291867	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11043213	RP11-7M8.2	cis	Muscle Skeletal	GTEx
rs11043213	HPD	cis	Muscle Skeletal	GTEx
rs11043213	HPD	cis	Heart Left Ventricle	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
4	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:122287600-122292400	Weak transcription	HepG2	liver
7	chr12:122287800-122292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:122288200-122292600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122288400-122292600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:122288800-122292600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:122290000-122292000	Strong transcription	Liver	Liver
12	chr12:122291200-122295400	Weak transcription	Pancreas	Pancrea

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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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