Variant report

Variant	rs11502791
Chromosome Location	chr12:9773148-9773149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12296780	1.00[ASN][1000 genomes]
rs12297897	1.00[ASN][1000 genomes]
rs12310346	1.00[ASN][1000 genomes]
rs12312053	1.00[ASN][1000 genomes]
rs12316700	1.00[ASN][1000 genomes]
rs12317027	1.00[ASN][1000 genomes]
rs12317528	1.00[ASN][1000 genomes]
rs12318969	1.00[ASN][1000 genomes]
rs57984884	1.00[ASN][1000 genomes]
rs7138347	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11502791	DDX12P	cis	Artery Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9764200-9777000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9769000-9773200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:9769400-9777400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:9770200-9776000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:9770200-9786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:9770400-9779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:9770600-9775000	Weak transcription	Aorta	Aorta
8	chr12:9771600-9794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
10	chr12:9771800-9773200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:9772200-9773200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:9772200-9773600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:9772200-9775000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:9772400-9777600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:9772600-9773400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:9772800-9776800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:9773000-9773800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:9773000-9776800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:9773000-9779400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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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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