Variant report

Variant	rs16888721
Chromosome Location	chr8:117783141-117783142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:117783123-117783229	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
EIF3H	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10094452	0.86[YRI][hapmap]
rs10283122	0.85[YRI][hapmap]
rs10505285	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10808485	0.90[YRI][hapmap]
rs12547063	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12548586	0.91[AFR][1000 genomes]
rs1343663	0.83[AFR][1000 genomes]
rs16888615	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs16888619	0.89[AMR][1000 genomes]
rs16888625	0.89[AMR][1000 genomes]
rs16888629	0.89[AMR][1000 genomes]
rs16888650	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888683	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888705	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888709	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366	0.82[AFR][1000 genomes]
rs4130879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41339048	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4372028	0.83[YRI][hapmap]
rs4449824	0.83[YRI][hapmap]
rs56998977	0.89[AMR][1000 genomes]
rs73322481	0.89[AMR][1000 genomes]
rs73324025	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7844973	0.96[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117779800-117784800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:117779800-117794600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:117780000-117783400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr8:117780000-117795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:117780200-117783800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:117780200-117784800	Weak transcription	Fetal Kidney	kidney
7	chr8:117780400-117783200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:117780400-117783400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:117780400-117783400	Weak transcription	NH-A	brain
10	chr8:117780400-117783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:117780400-117783800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:117780400-117783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:117780400-117784000	Weak transcription	Gastric	stomach
14	chr8:117780400-117784200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:117780400-117784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:117780400-117784600	Weak transcription	Esophagus	oesophagus
17	chr8:117780400-117785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:117780400-117785400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:117780400-117787200	Weak transcription	Fetal Intestine Small	intestine
20	chr8:117780400-117787200	Weak transcription	Right Ventricle	heart
21	chr8:117780400-117793200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:117780400-117795200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:117780400-117796000	Weak transcription	Lung	lung
24	chr8:117780400-117798800	Weak transcription	HSMMtube	muscle
25	chr8:117780400-117799800	Weak transcription	Fetal Stomach	stomach
26	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
27	chr8:117780600-117783400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:117780600-117783600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:117780600-117785000	Weak transcription	Fetal Brain Male	brain
30	chr8:117780600-117785600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:117780600-117787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:117780600-117793400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:117780600-117796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:117780600-117800600	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:117780600-117800600	Weak transcription	Psoas Muscle	Psoas
36	chr8:117780600-117800800	Weak transcription	Brain Angular Gyrus	brain
37	chr8:117780600-117800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:117780600-117800800	Weak transcription	Brain Substantia Nigra	brain
39	chr8:117780600-117802200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:117781000-117785400	Strong transcription	Fetal Thymus	thymus
41	chr8:117781000-117785800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:117781200-117784200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:117781200-117785600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:117781200-117785600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr8:117781400-117783600	Strong transcription	Primary B cells from cord blood	blood
46	chr8:117781400-117784600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:117781400-117785400	Strong transcription	Placenta	Placenta
48	chr8:117781400-117785600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:117781600-117783400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:117781600-117783800	Weak transcription	Left Ventricle	heart

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