Variant report

Variant	rs6997523
Chromosome Location	chr8:10916754-10916755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10096332	0.91[EUR][1000 genomes]
rs11775350	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12115017	0.83[AMR][1000 genomes]
rs13251510	0.87[ASN][1000 genomes]
rs28447601	0.81[ASN][1000 genomes]
rs56078888	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6601552	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6601553	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6601554	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6983301	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6993779	0.80[EUR][1000 genomes]
rs7016414	0.88[ASN][1000 genomes]
rs7016760	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7815958	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7821584	0.92[ASN][1000 genomes]
rs7839902	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10916200-10917400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr8:10916400-10916800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:10916400-10916800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr8:10916400-10916800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:10916400-10916800	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr8:10916400-10916800	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr8:10916400-10916800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr8:10916400-10916800	Enhancers	Fetal Heart	heart
12	chr8:10916400-10916800	Flanking Active TSS	HSMMtube	muscle
13	chr8:10916400-10917000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
15	chr8:10916400-10917000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:10916400-10917000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:10916400-10917000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr8:10916400-10917200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:10916400-10917200	Active TSS	HSMM	muscle
24	chr8:10916400-10917400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:10916400-10917400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:10916400-10917400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:10916400-10917400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:10916400-10917400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:10916400-10917400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr8:10916400-10917600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr8:10916400-10917600	Active TSS	Brain Angular Gyrus	brain
32	chr8:10916400-10917600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:10916400-10917800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:10916400-10917800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr8:10916400-10918000	Bivalent Enhancer	Fetal Brain Male	brain
36	chr8:10916600-10916800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:10916600-10916800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr8:10916600-10916800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
45	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
46	chr8:10916600-10916800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:10916600-10916800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:10916600-10916800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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