Variant report

Variant	rs16884689
Chromosome Location	chr8:114446486-114446487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114441726..114443315-chr8:114445051..114447307,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10099644	0.81[JPT][hapmap]
rs1055168	0.82[JPT][hapmap]
rs10955661	0.81[EUR][1000 genomes]
rs1533274	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16884600	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16884604	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16884651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16884657	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16884662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16884700	0.91[CHB][hapmap]
rs1993895	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127057	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279160	0.82[JPT][hapmap]
rs2942849	0.82[JPT][hapmap]
rs2942850	0.82[JPT][hapmap]
rs2954900	0.82[JPT][hapmap]
rs4074797	0.81[JPT][hapmap]
rs57433086	0.86[AMR][1000 genomes]
rs61249889	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs719213	0.90[CHB][hapmap];0.86[AMR][1000 genomes]
rs7464662	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs922467	0.82[JPT][hapmap]

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	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114443800-114450200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
3	chr8:114444000-114446800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:114444400-114446600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr8:114444400-114450200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr8:114444400-114450600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr8:114445200-114449200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr8:114445400-114447000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr8:114445800-114446600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:114445800-114446600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr8:114445800-114447000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:114446000-114446600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:114446000-114446600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:114446000-114446800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr8:114446000-114447000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr8:114446000-114447000	Bivalent Enhancer	Colon Smooth Muscle	Colon
18	chr8:114446000-114447000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr8:114446200-114446600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr8:114446200-114446600	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr8:114446200-114446800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr8:114446200-114446800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
23	chr8:114446200-114446800	Bivalent Enhancer	Fetal Lung	lung
24	chr8:114446200-114447000	Enhancers	Pancreas	Pancrea
25	chr8:114446400-114446600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:114446400-114446600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:114446400-114446600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:114446400-114446600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr8:114446400-114446600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr8:114446400-114446600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:114446400-114446600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:114446400-114446600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:114446400-114446600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:114446400-114446600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr8:114446400-114446600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr8:114446400-114446600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr8:114446400-114446800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:114446400-114446800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
39	chr8:114446400-114446800	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr8:114446400-114447000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr8:114446400-114447200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:114446400-114447400	Enhancers	Gastric	stomach
43	chr8:114446400-114450600	Active TSS	Brain Anterior Caudate	brain
44	chr8:114446400-114451200	Active TSS	Brain Angular Gyrus	brain

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