Variant report

Variant	rs11051547
Chromosome Location	chr12:31876666-31876667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10843992	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs11051514	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs11051515	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs11051516	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs11051517	0.87[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs11051519	0.88[ASN][1000 genomes]
rs11051521	0.87[AMR][1000 genomes]
rs11051522	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs11051527	0.88[ASN][1000 genomes]
rs11051534	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11051535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11051536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11051538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11051540	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11051546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11051551	1.00[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap]
rs12231666	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4931536	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs4931538	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4931545	0.89[ASN][1000 genomes]
rs4931546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931547	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59091295	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61932065	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7308889	0.84[ASN][1000 genomes]
rs7959989	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11051547	DDX11	cis	lymphoblastoid	seeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
3	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:31862200-31880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:31868400-31879600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:31868800-31880800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:31868800-31881000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:31869000-31880000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:31869000-31880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:31870000-31877600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:31870200-31877600	ZNF genes & repeats	Fetal Brain Female	brain
14	chr12:31870200-31880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:31870400-31881200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:31871800-31878200	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr12:31872000-31881200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:31872200-31876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:31872200-31877200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:31872200-31877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:31872200-31877200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:31872200-31877200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:31872200-31877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:31872200-31877600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:31872200-31877600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:31872200-31880000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:31872200-31880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:31872200-31880600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:31872200-31880800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:31872200-31880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:31872200-31881200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:31872200-31881200	Weak transcription	Ovary	ovary
33	chr12:31872200-31881400	Weak transcription	Esophagus	oesophagus
34	chr12:31872200-31881400	Weak transcription	Gastric	stomach
35	chr12:31872600-31879600	Weak transcription	Dnd41	blood
36	chr12:31872600-31880800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:31873000-31877800	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr12:31873200-31881000	Weak transcription	Fetal Kidney	kidney
39	chr12:31873800-31877800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:31873800-31881000	Weak transcription	Fetal Lung	lung
41	chr12:31874000-31876800	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr12:31874000-31877600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr12:31874000-31877600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:31874000-31878400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:31874400-31877200	Enhancers	HepG2	liver
46	chr12:31874400-31881200	Weak transcription	Fetal Stomach	stomach
47	chr12:31874600-31877200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:31874600-31877400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:31874600-31881000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:31874800-31877000	Flanking Active TSS	GM12878-XiMat	blood

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