Variant report

Variant	rs56078888
Chromosome Location	chr8:10917256-10917257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10096332	0.83[EUR][1000 genomes]
rs11775350	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13251510	0.82[ASN][1000 genomes]
rs6601554	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983301	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6997523	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7016414	0.81[ASN][1000 genomes]
rs7016760	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7815958	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7821584	0.85[ASN][1000 genomes]
rs7839902	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3443449	chr8:10915967-10918515	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10916200-10917400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:10916400-10917400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:10916400-10917400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:10916400-10917400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:10916400-10917400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:10916400-10917400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:10916400-10917400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr8:10916400-10917600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:10916400-10917600	Active TSS	Brain Angular Gyrus	brain
10	chr8:10916400-10917600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:10916400-10917800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:10916400-10917800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr8:10916400-10918000	Bivalent Enhancer	Fetal Brain Male	brain
14	chr8:10916600-10917400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:10916600-10917400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:10916600-10917400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:10916600-10917400	Active TSS	Left Ventricle	heart
18	chr8:10916600-10917400	Active TSS	Right Atrium	heart
19	chr8:10916600-10917400	Flanking Active TSS	HMEC	breast
20	chr8:10916600-10917600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:10916600-10917600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:10916600-10917600	Bivalent/Poised TSS	NHEK	skin
23	chr8:10916600-10917800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:10916600-10918000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr8:10916800-10917400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:10916800-10917400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:10916800-10917400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
28	chr8:10916800-10917400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:10916800-10917400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:10916800-10917400	Active TSS	Brain Anterior Caudate	brain
31	chr8:10916800-10917400	Active TSS	Brain Germinal Matrix	brain
32	chr8:10916800-10917400	Active TSS	Brain Substantia Nigra	brain
33	chr8:10916800-10917400	Active TSS	Fetal Brain Female	brain
34	chr8:10916800-10917400	Active TSS	Psoas Muscle	Psoas
35	chr8:10916800-10917400	Active TSS	Right Ventricle	heart
36	chr8:10916800-10917400	Active TSS	GM12878-XiMat	blood
37	chr8:10916800-10917600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr8:10916800-10917600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr8:10916800-10917800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:10916800-10917800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr8:10916800-10917800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:10916800-10918000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:10917000-10917400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:10917000-10917400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:10917000-10917400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:10917000-10917400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:10917000-10917400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:10917000-10917400	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:10917000-10917600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
50	chr8:10917000-10917600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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