Variant report

Variant	rs11176154
Chromosome Location	chr12:40745902-40745903
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10506155	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784532	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878372	0.84[ASN][1000 genomes]
rs11176118	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11176153	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11176165	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176386	0.82[ASN][1000 genomes]
rs12368229	0.90[ASN][1000 genomes]
rs17444223	0.87[ASN][1000 genomes]
rs17462055	0.92[ASN][1000 genomes]
rs2162471	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61915610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132187	0.96[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137173	0.88[ASN][1000 genomes]
rs715403	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7303525	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7311501	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:40674400-40760400	Weak transcription	Lung	lung
4	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
8	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:40724800-40751000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
11	chr12:40726200-40766600	Weak transcription	A549	lung
12	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:40730000-40747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
16	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
17	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:40734600-40754200	Weak transcription	Esophagus	oesophagus
21	chr12:40735600-40747000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:40737000-40751600	Weak transcription	Left Ventricle	heart
23	chr12:40737200-40754000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:40742800-40746800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:40744400-40754200	Weak transcription	Aorta	Aorta
26	chr12:40745400-40746000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:40745400-40746000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr12:40745400-40746200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:40745400-40746200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:40745400-40746200	Strong transcription	Liver	Liver
31	chr12:40745400-40746200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:40745600-40746000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:40745600-40746000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:40745600-40746200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr12:40745600-40746200	Strong transcription	Adipose Nuclei	Adipose
36	chr12:40745600-40746200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:40745600-40746200	Strong transcription	Ovary	ovary
38	chr12:40745600-40746400	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr12:40745800-40746000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
40	chr12:40745800-40746200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:40745800-40746200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:40745800-40746200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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