Variant report

Variant	rs11052063
Chromosome Location	chr12:32701139-32701140
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10431226	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10431284	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844237	0.91[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844240	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844241	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10844242	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052066	0.84[AMR][1000 genomes]
rs11052068	0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1499615	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1846553	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2088656	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2133542	0.83[ASN][1000 genomes]
rs4244859	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4931634	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4931635	0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4931636	0.80[AMR][1000 genomes]
rs4931637	0.80[AMR][1000 genomes]
rs5006548	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488062	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6488063	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7303281	0.85[ASN][1000 genomes]
rs7305459	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964106	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7972677	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
3	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
5	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:32695200-32701200	Weak transcription	HMEC	breast
11	chr12:32695200-32701800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:32695200-32702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:32696000-32701200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:32696000-32701600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:32696000-32702600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:32696000-32704200	Enhancers	Ovary	ovary
17	chr12:32696200-32701400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:32696200-32702200	Weak transcription	Fetal Kidney	kidney
19	chr12:32696200-32702800	Enhancers	Liver	Liver
20	chr12:32696400-32701400	Weak transcription	Gastric	stomach
21	chr12:32696400-32701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:32696600-32702000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:32697400-32701200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:32697400-32702200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:32697400-32704200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:32697800-32703200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:32698400-32701200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:32698400-32702200	Weak transcription	Primary B cells from cord blood	blood
29	chr12:32698400-32702400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:32698800-32701200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:32698800-32701400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:32698800-32701400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:32698800-32701600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:32698800-32701600	Weak transcription	Fetal Brain Male	brain
35	chr12:32698800-32701600	Weak transcription	Placenta	Placenta
36	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
37	chr12:32699200-32701200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:32699200-32701400	Weak transcription	Fetal Brain Female	brain
39	chr12:32699200-32701800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:32699200-32704200	Enhancers	Left Ventricle	heart
41	chr12:32699200-32705600	Enhancers	Psoas Muscle	Psoas
42	chr12:32699400-32702600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:32699400-32704200	Enhancers	Lung	lung
44	chr12:32699600-32701200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:32699600-32701600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:32699600-32714800	Weak transcription	Fetal Intestine Large	intestine
47	chr12:32699800-32701200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:32699800-32701400	Weak transcription	Fetal Stomach	stomach
49	chr12:32699800-32701600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:32699800-32701600	Weak transcription	Pancreas	Pancrea

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