Variant report

Variant	rs11053583
Chromosome Location	chr12:10253471-10253472
allele	C/T
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:30)

rs_ID	r²[population]
rs11053584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11053585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2101466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55909700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56054444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56915317	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58747130	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60168092	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60752837	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61316374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61704402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488260	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301063	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301474	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7304980	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306138	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7314731	0.94[AFR][1000 genomes]
rs7962985	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970226	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976707	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7979911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651848	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10242800-10253800	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:10250200-10253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:10250600-10254200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:10251000-10254600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:10251400-10255400	Enhancers	Placenta	Placenta
6	chr12:10251600-10253600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:10251600-10253600	Weak transcription	Left Ventricle	heart
8	chr12:10251600-10253600	Weak transcription	Lung	lung
9	chr12:10251600-10253800	Weak transcription	Fetal Thymus	thymus
10	chr12:10251600-10253800	Weak transcription	Ovary	ovary
11	chr12:10251800-10253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:10251800-10253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:10251800-10253800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:10251800-10253800	Weak transcription	Esophagus	oesophagus
15	chr12:10251800-10253800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:10252000-10253600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:10252000-10253600	Weak transcription	HUVEC	blood vessel
18	chr12:10252000-10253800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:10252400-10254000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:10252400-10255800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:10252600-10253800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:10252800-10253800	Weak transcription	Small Intestine	intestine
23	chr12:10253000-10255000	Enhancers	Fetal Stomach	stomach
24	chr12:10253200-10255000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:10253400-10253600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:10253400-10253600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:10253400-10253600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:10253400-10253600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr12:10253400-10253600	Enhancers	Fetal Kidney	kidney
30	chr12:10253400-10253800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:10253400-10253800	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:10253400-10253800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:10253400-10254200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:10253400-10254200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:10253400-10254400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:10253400-10254400	Enhancers	Adipose Nuclei	Adipose
37	chr12:10253400-10254400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:10253400-10254400	Enhancers	Right Atrium	heart
39	chr12:10253400-10254400	Enhancers	NHDF-Ad	bronchial
40	chr12:10253400-10254600	Enhancers	Fetal Lung	lung
41	chr12:10253400-10254600	Enhancers	Fetal Muscle Leg	muscle
42	chr12:10253400-10254600	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr12:10253400-10254600	Enhancers	HMEC	breast

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