Variant report

Variant	rs11052058
Chromosome Location	chr12:32690399-32690400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32684229..32686702-chr12:32690075..32692767,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10444425	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052030	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052033	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052035	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11052036	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11052043	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11052049	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11052051	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11052056	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12367520	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3850983	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61927245	0.83[EUR][1000 genomes]
rs61927246	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61928288	1.00[AMR][1000 genomes];1.00[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:90 , 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	chr12:32686200-32692400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:32686600-32691000	Active TSS	Ovary	ovary
4	chr12:32687800-32694800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:32688400-32690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:32688400-32693000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:32688400-32693200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
9	chr12:32688600-32690600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:32688600-32690600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:32688600-32692600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:32688600-32694200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:32688600-32697800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:32688800-32690800	Weak transcription	Colonic Mucosa	Colon
16	chr12:32688800-32691000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:32688800-32691000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:32688800-32691400	Weak transcription	Right Ventricle	heart
19	chr12:32688800-32692600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:32688800-32692800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:32688800-32693000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:32688800-32693800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:32688800-32694200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:32688800-32694800	Weak transcription	Fetal Brain Female	brain
25	chr12:32689000-32690800	Enhancers	Brain Substantia Nigra	brain
26	chr12:32689000-32691200	Enhancers	Brain Hippocampus Middle	brain
27	chr12:32689000-32691200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:32689000-32693800	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:32689000-32694200	Weak transcription	Fetal Intestine Large	intestine
30	chr12:32689000-32694400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:32689000-32695200	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:32689000-32698000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
34	chr12:32689200-32690600	Weak transcription	NHEK	skin
35	chr12:32689200-32691200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:32689200-32693000	Weak transcription	Brain Anterior Caudate	brain
37	chr12:32689200-32693600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:32689200-32694800	Enhancers	HepG2	liver
39	chr12:32689200-32697800	Weak transcription	Fetal Heart	heart
40	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:32689400-32690600	Enhancers	Right Atrium	heart
42	chr12:32689400-32691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:32689400-32691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:32689400-32692000	Enhancers	Psoas Muscle	Psoas
45	chr12:32689400-32694200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:32689600-32690600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32689600-32690600	Enhancers	Aorta	Aorta
48	chr12:32689600-32690600	Enhancers	NH-A	brain
49	chr12:32689600-32691000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:32689600-32691000	Weak transcription	Fetal Stomach	stomach

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