Variant report

Variant	rs11052051
Chromosome Location	chr12:32681992-32681993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10444425	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052030	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052033	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052035	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052036	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052049	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11052056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052058	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12367520	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850983	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927244	1.00[ASN][1000 genomes]
rs61927245	0.85[EUR][1000 genomes]
rs61927246	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61928288	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32666600-32685200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:32668200-32685800	Weak transcription	Gastric	stomach
6	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:32668800-32686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:32669800-32687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:32671600-32686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:32675800-32685400	Weak transcription	Fetal Brain Female	brain
11	chr12:32676000-32683200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:32676000-32684600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:32676000-32685400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:32676000-32686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:32676200-32683200	Weak transcription	Liver	Liver
16	chr12:32676200-32683200	Weak transcription	Stomach Mucosa	stomach
17	chr12:32676200-32685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:32676200-32685400	Weak transcription	HSMM	muscle
19	chr12:32676200-32685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:32676200-32685800	Weak transcription	Aorta	Aorta
21	chr12:32676200-32685800	Weak transcription	Psoas Muscle	Psoas
22	chr12:32676200-32687000	Weak transcription	Left Ventricle	heart
23	chr12:32676200-32687000	Weak transcription	Right Ventricle	heart
24	chr12:32676200-32688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:32676400-32684600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:32676400-32685000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:32676400-32685400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:32676400-32686600	Weak transcription	Brain Substantia Nigra	brain
29	chr12:32676400-32686800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:32676600-32683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:32676600-32684600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:32676600-32685800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:32676600-32685800	Weak transcription	Right Atrium	heart
34	chr12:32676600-32686000	Weak transcription	Brain Anterior Caudate	brain
35	chr12:32676600-32686600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:32676800-32685400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:32677000-32682000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:32677000-32685400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:32677200-32685600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:32677200-32685800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:32677200-32686200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:32677800-32685800	Weak transcription	Ovary	ovary
43	chr12:32677800-32686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:32678200-32685800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:32678400-32687000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:32678800-32686800	Weak transcription	HMEC	breast
47	chr12:32679000-32682400	Strong transcription	Fetal Intestine Small	intestine
48	chr12:32680400-32687000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:32681000-32682200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:32681200-32685800	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links