Variant report

Variant	rs1051660
Chromosome Location	chr8:54163562-54163563
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10504151	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056414	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16918928	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16918934	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16918938	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303432	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303433	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35970029	1.00[ASN][1000 genomes]
rs56690653	0.93[EUR][1000 genomes]
rs57161200	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58452354	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589353	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589371	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589373	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589374	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589376	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589378	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589380	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589382	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589387	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589389	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589390	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73589393	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73589394	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73589396	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73589397	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73589399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813478	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826599	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs984136	0.99[ASN][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	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54162600-54164600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:54162800-54164600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:54162800-54164600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:54162800-54164600	Bivalent/Poised TSS	Placenta	Placenta
5	chr8:54162800-54165000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
6	chr8:54163000-54163600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:54163000-54164400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr8:54163000-54164400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:54163000-54164600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr8:54163000-54164600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:54163000-54164600	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr8:54163000-54164800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:54163000-54165000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:54163200-54163600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:54163200-54163600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr8:54163200-54163600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
17	chr8:54163200-54163800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr8:54163200-54164000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:54163200-54164000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:54163200-54164000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:54163200-54164000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr8:54163200-54164000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr8:54163200-54164000	Bivalent Enhancer	Fetal Brain Male	brain
24	chr8:54163200-54164000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr8:54163200-54164000	Enhancers	Gastric	stomach
26	chr8:54163200-54164000	Bivalent Enhancer	Lung	lung
27	chr8:54163200-54164000	Flanking Bivalent TSS/Enh	Ovary	ovary
28	chr8:54163200-54164200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:54163200-54164200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:54163200-54164200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr8:54163200-54164200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr8:54163200-54164600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:54163200-54164600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:54163200-54164600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:54163200-54164600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:54163200-54164600	Active TSS	Right Atrium	heart
37	chr8:54163200-54164600	Active TSS	Right Ventricle	heart
38	chr8:54163200-54164800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:54163400-54163600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:54163400-54163600	Bivalent Enhancer	Primary T cells from cord blood	blood
41	chr8:54163400-54163600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
42	chr8:54163400-54163600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr8:54163400-54163600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:54163400-54163600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:54163400-54163600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
46	chr8:54163400-54163600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
47	chr8:54163400-54163800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:54163400-54163800	Bivalent/Poised TSS	NHEK	skin
49	chr8:54163400-54164000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr8:54163400-54164000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus

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