Variant report

Variant	rs11554072
Chromosome Location	chr8:104241152-104241153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10089343	0.94[AFR][1000 genomes]
rs10100382	0.91[AFR][1000 genomes]
rs10102413	0.94[AFR][1000 genomes]
rs10156252	0.94[AFR][1000 genomes]
rs1113413	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11785583	0.94[AFR][1000 genomes]
rs13263611	0.94[AFR][1000 genomes]
rs17205821	0.94[AFR][1000 genomes]
rs34208282	0.94[AFR][1000 genomes]
rs34893881	0.91[AFR][1000 genomes]
rs55713894	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56006114	0.81[EUR][1000 genomes]
rs56047420	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56133346	0.84[EUR][1000 genomes]
rs60613695	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6468866	0.94[AFR][1000 genomes]
rs6992681	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7013734	0.94[AFR][1000 genomes]
rs7017690	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72673324	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72673327	0.90[EUR][1000 genomes]
rs72673331	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72673333	0.82[EUR][1000 genomes]
rs72673336	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72673337	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72673338	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72673342	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72673345	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7464317	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104222400-104241200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:104226400-104242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:104227600-104242200	Weak transcription	Fetal Brain Female	brain
4	chr8:104227600-104245400	Weak transcription	Fetal Brain Male	brain
5	chr8:104228000-104241600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:104231200-104243000	Weak transcription	Esophagus	oesophagus
7	chr8:104232000-104241600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:104232600-104241400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:104233600-104242200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:104233800-104241200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:104237600-104241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:104237600-104242800	Strong transcription	Primary hematopoietic stem cells	blood
13	chr8:104238400-104242800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:104238400-104245200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:104238600-104242200	Weak transcription	Aorta	Aorta
16	chr8:104240000-104242400	Enhancers	Brain Substantia Nigra	brain
17	chr8:104240000-104243000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:104240200-104241200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr8:104240200-104241400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:104240200-104241600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:104240200-104243000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:104240200-104243000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:104240400-104241200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:104240400-104241400	Genic enhancers	Brain Angular Gyrus	brain
25	chr8:104240400-104241400	Genic enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:104240400-104242000	Enhancers	Liver	Liver
27	chr8:104240600-104241200	Genic enhancers	Brain Anterior Caudate	brain
28	chr8:104240600-104243200	Enhancers	HUVEC	blood vessel
29	chr8:104240800-104241200	Enhancers	Gastric	stomach
30	chr8:104240800-104241200	Enhancers	Lung	lung
31	chr8:104240800-104241400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:104240800-104241400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:104240800-104241400	Enhancers	Ovary	ovary
34	chr8:104240800-104241400	Enhancers	Pancreas	Pancrea
35	chr8:104240800-104241600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:104240800-104241600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:104240800-104242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:104240800-104243200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:104240800-104243600	Enhancers	Fetal Heart	heart
40	chr8:104241000-104241400	Enhancers	Spleen	Spleen
41	chr8:104241000-104241800	Enhancers	Fetal Stomach	stomach
42	chr8:104241000-104241800	Enhancers	Osteobl	bone
43	chr8:104241000-104242000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:104241000-104242400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:104241000-104242400	Enhancers	Adipose Nuclei	Adipose
46	chr8:104241000-104242400	Enhancers	Fetal Intestine Large	intestine
47	chr8:104241000-104242600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:104241000-104242600	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:104241000-104243000	Enhancers	NHDF-Ad	bronchial

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