Variant report

Variant	rs72923979
Chromosome Location	chr11:57183218-57183219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2584857	0.89[EUR][1000 genomes]
rs3851116	1.00[EUR][1000 genomes]
rs62640922	1.00[EUR][1000 genomes]
rs6591424	1.00[EUR][1000 genomes]
rs6591426	0.96[EUR][1000 genomes]
rs72923987	0.89[EUR][1000 genomes]
rs72923988	0.89[EUR][1000 genomes]
rs72923992	0.89[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57167400-57188200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:57171000-57184800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:57172000-57185000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:57172600-57189800	Strong transcription	Dnd41	blood
6	chr11:57172800-57185000	Weak transcription	NH-A	brain
7	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:57173200-57184400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:57173200-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:57173200-57191400	Strong transcription	Fetal Thymus	thymus
11	chr11:57173600-57185600	Strong transcription	HMEC	breast
12	chr11:57174200-57184800	Weak transcription	Psoas Muscle	Psoas
13	chr11:57174200-57186200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:57174200-57189400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:57174200-57191800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:57174400-57183800	Weak transcription	Fetal Brain Male	brain
17	chr11:57174400-57185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:57174600-57185800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:57174800-57185600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:57174800-57189200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:57174800-57192000	Weak transcription	HSMMtube	muscle
22	chr11:57175000-57183400	Strong transcription	Liver	Liver
23	chr11:57175000-57184000	Strong transcription	Lung	lung
24	chr11:57175000-57184000	Weak transcription	Right Atrium	heart
25	chr11:57175000-57184600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:57175000-57188800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:57175000-57190000	Strong transcription	NHEK	skin
28	chr11:57175400-57190200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:57175600-57187400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:57175600-57191200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:57175600-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:57175800-57184600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:57175800-57184800	Weak transcription	Brain Substantia Nigra	brain
34	chr11:57175800-57184800	Weak transcription	Fetal Kidney	kidney
35	chr11:57176000-57192800	Weak transcription	Stomach Mucosa	stomach
36	chr11:57176200-57184000	Weak transcription	Placenta	Placenta
37	chr11:57176800-57192800	Weak transcription	Brain Anterior Caudate	brain
38	chr11:57177400-57186000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr11:57177800-57188200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:57177800-57189400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:57178000-57184400	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:57178000-57185000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:57178000-57190400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:57178200-57184800	Strong transcription	Osteobl	bone
45	chr11:57178200-57190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:57179200-57184200	Strong transcription	NHDF-Ad	bronchial
47	chr11:57180000-57186000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:57180000-57186000	Strong transcription	Ovary	ovary
49	chr11:57180000-57186200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:57180200-57184000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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