Variant report

Variant	rs13254920
Chromosome Location	chr8:11550770-11550771
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28488522	1.00[EUR][1000 genomes]
rs34814359	1.00[EUR][1000 genomes]
rs4377925	1.00[EUR][1000 genomes]
rs4556056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4576391	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11549800-11550800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr8:11549800-11550800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr8:11549800-11550800	Active TSS	Ovary	ovary
4	chr8:11549800-11551000	Active TSS	Right Atrium	heart
5	chr8:11550000-11550800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:11550000-11550800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:11550000-11550800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:11550000-11550800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr8:11550000-11550800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:11550000-11554200	Enhancers	Fetal Heart	heart
11	chr8:11550200-11550800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr8:11550200-11551000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:11550200-11551000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:11550200-11551600	Enhancers	Gastric	stomach
15	chr8:11550200-11552000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:11550400-11550800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:11550400-11550800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:11550400-11550800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:11550400-11550800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:11550400-11550800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:11550400-11550800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:11550400-11550800	Bivalent Enhancer	Brain Anterior Caudate	brain
23	chr8:11550400-11550800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr8:11550400-11551000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:11550400-11551000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr8:11550400-11551000	Bivalent Enhancer	Fetal Brain Male	brain
27	chr8:11550400-11551000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr8:11550400-11551000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr8:11550400-11551000	Flanking Active TSS	Right Ventricle	heart
30	chr8:11550600-11550800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:11550600-11550800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:11550600-11550800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:11550600-11550800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr8:11550600-11550800	Bivalent Enhancer	Brain Hippocampus Middle	brain
35	chr8:11550600-11550800	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr8:11550600-11550800	Bivalent/Poised TSS	Placenta	Placenta
37	chr8:11550600-11550800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr8:11550600-11550800	Bivalent Enhancer	Fetal Thymus	thymus
39	chr8:11550600-11550800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
40	chr8:11550600-11550800	Bivalent/Poised TSS	Stomach Mucosa	stomach
41	chr8:11550600-11550800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr8:11550600-11551000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr8:11550600-11551000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr8:11550600-11551000	Bivalent Enhancer	Colon Smooth Muscle	Colon
45	chr8:11550600-11551000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr8:11550600-11551000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr8:11550600-11551000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
48	chr8:11550600-11551000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr8:11550600-11551200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr8:11550600-11551200	Bivalent Enhancer	Fetal Lung	lung

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