Variant report

Variant	rs60762047
Chromosome Location	chr11:107971350-107971351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11604711	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12416788	0.91[EUR][1000 genomes]
rs12418162	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12421527	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12793438	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12796482	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35185685	0.91[EUR][1000 genomes]
rs35237843	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs611018	1.00[AFR][1000 genomes]
rs639923	1.00[AFR][1000 genomes]
rs71464788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:107928200-107985200	Weak transcription	Psoas Muscle	Psoas
5	chr11:107941000-107971800	Weak transcription	NHEK	skin
6	chr11:107946600-107986000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:107953200-107991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:107953400-107972000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:107953600-107986000	Weak transcription	Pancreas	Pancrea
10	chr11:107954800-107972200	Weak transcription	Aorta	Aorta
11	chr11:107955200-107972000	Weak transcription	Gastric	stomach
12	chr11:107955800-107991800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:107956000-107971800	Weak transcription	Fetal Kidney	kidney
14	chr11:107958400-107977200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:107958600-107978200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:107958800-107980400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:107959000-107976600	Strong transcription	Fetal Thymus	thymus
18	chr11:107959000-107977000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:107959200-107977000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:107959200-107977800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:107960000-107977000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:107961400-107977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:107961600-107976800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:107962200-107974400	Strong transcription	Dnd41	blood
25	chr11:107962200-107977000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:107962600-107972000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:107962600-107972000	Weak transcription	Lung	lung
28	chr11:107962600-107972200	Weak transcription	Right Ventricle	heart
29	chr11:107962800-107977600	Weak transcription	Esophagus	oesophagus
30	chr11:107963400-107971600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:107963600-107975400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:107963800-107975400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:107964000-107976800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:107964000-107977200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:107964000-107978600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:107964400-107971800	Weak transcription	Fetal Heart	heart
37	chr11:107964400-107972400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:107964600-107978000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:107965400-107973800	Strong transcription	Adipose Nuclei	Adipose
40	chr11:107965400-107973800	Strong transcription	Fetal Intestine Large	intestine
41	chr11:107965400-107973800	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:107965400-107975200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:107965400-107977200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr11:107965600-107972200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:107965600-107973800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:107965600-107974000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:107965600-107974200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:107965600-107974200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:107965600-107974800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:107965600-107975800	Strong transcription	Placenta	Placenta

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