Variant report

Variant	rs12224037
Chromosome Location	chr11:45405364-45405365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10838464	0.83[EUR][1000 genomes]
rs10838465	0.83[EUR][1000 genomes]
rs10838467	0.81[EUR][1000 genomes]
rs11038428	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12271560	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12275086	0.85[EUR][1000 genomes]
rs1873056	0.80[EUR][1000 genomes]
rs2046733	0.81[EUR][1000 genomes]
rs34042421	0.85[EUR][1000 genomes]
rs35072015	0.83[EUR][1000 genomes]
rs59678781	0.81[EUR][1000 genomes]
rs7928480	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7943688	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv467869	chr11:45389225-45415035	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv554185	chr11:45389225-45415035	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45393800-45406200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:45394200-45406200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45403200-45405400	Enhancers	Ovary	ovary
4	chr11:45403200-45408400	Enhancers	Brain Germinal Matrix	brain
5	chr11:45403200-45410000	Enhancers	Fetal Thymus	thymus
6	chr11:45403400-45406000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:45403600-45405400	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:45403600-45405800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr11:45403600-45407800	Enhancers	Thymus	Thymus
10	chr11:45403600-45408000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr11:45403800-45405400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:45403800-45405400	Enhancers	Osteobl	bone
13	chr11:45403800-45405600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:45403800-45405600	Enhancers	Primary T cells from cord blood	blood
15	chr11:45404000-45406800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:45404200-45405400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:45404200-45405400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:45404200-45405400	Enhancers	Right Atrium	heart
19	chr11:45404200-45405400	Enhancers	HSMM	muscle
20	chr11:45404200-45405400	Enhancers	HSMMtube	muscle
21	chr11:45404200-45407800	Enhancers	Fetal Brain Male	brain
22	chr11:45404400-45406000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr11:45404600-45405800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr11:45404600-45405800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:45404800-45405400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr11:45404800-45405400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:45404800-45405600	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr11:45404800-45406000	Enhancers	Lung	lung
29	chr11:45404800-45407600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr11:45405000-45406000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:45405000-45406000	Weak transcription	Fetal Brain Female	brain
32	chr11:45405000-45406600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:45405200-45405400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:45405200-45405400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:45405200-45405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:45405200-45406400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:45405200-45407000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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