Variant report

Variant	rs73454175
Chromosome Location	chr11:45404531-45404532
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45402149..45405049-chr11:45410823..45413385,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11038418	1.00[AMR][1000 genomes]
rs11038419	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038438	1.00[AMR][1000 genomes]
rs11038452	1.00[AMR][1000 genomes]
rs11825223	1.00[AMR][1000 genomes]
rs12276259	1.00[AMR][1000 genomes]
rs12277157	1.00[AMR][1000 genomes]
rs12279773	1.00[AMR][1000 genomes]
rs12292233	1.00[AMR][1000 genomes]
rs12293909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294964	1.00[AMR][1000 genomes]
rs56713024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57019392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57994052	1.00[AMR][1000 genomes]
rs58177091	1.00[AMR][1000 genomes]
rs58296747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59579209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59763062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60799662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452123	1.00[AMR][1000 genomes]
rs73452198	1.00[AMR][1000 genomes]
rs73456092	1.00[AMR][1000 genomes]
rs73458136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73458172	1.00[AFR][1000 genomes];1.00[AMR][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:39 , 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	chr11:45397400-45404600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:45403200-45405400	Enhancers	Ovary	ovary
5	chr11:45403200-45408400	Enhancers	Brain Germinal Matrix	brain
6	chr11:45403200-45410000	Enhancers	Fetal Thymus	thymus
7	chr11:45403400-45404800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:45403400-45406000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:45403600-45405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:45403600-45405400	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:45403600-45405800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr11:45403600-45407800	Enhancers	Thymus	Thymus
13	chr11:45403600-45408000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr11:45403800-45404800	Weak transcription	Lung	lung
15	chr11:45403800-45405200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:45403800-45405200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:45403800-45405400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:45403800-45405400	Enhancers	Osteobl	bone
19	chr11:45403800-45405600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:45403800-45405600	Enhancers	Primary T cells from cord blood	blood
21	chr11:45404000-45405000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:45404000-45406800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:45404200-45404800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:45404200-45405000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:45404200-45405000	Enhancers	Fetal Brain Female	brain
26	chr11:45404200-45405200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:45404200-45405200	Enhancers	Fetal Lung	lung
28	chr11:45404200-45405200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
29	chr11:45404200-45405400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:45404200-45405400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:45404200-45405400	Enhancers	Right Atrium	heart
32	chr11:45404200-45405400	Enhancers	HSMM	muscle
33	chr11:45404200-45405400	Enhancers	HSMMtube	muscle
34	chr11:45404200-45407800	Enhancers	Fetal Brain Male	brain
35	chr11:45404400-45404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:45404400-45405000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:45404400-45405000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:45404400-45405000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr11:45404400-45406000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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