Variant report

Variant	rs13267530
Chromosome Location	chr8:96443752-96443753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:96443640-96443790	HCFaa	heart:	n/a	n/a
2	CTBP2	chr8:96442803-96443791	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000253773	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10110745	0.85[EUR][1000 genomes]
rs10113800	0.83[EUR][1000 genomes]
rs13249160	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13254354	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429930	chr8:96317910-96454743	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1026549	chr8:96367183-96573134	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv539681	chr8:96367183-96573134	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1031846	chr8:96380353-96501647	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv539682	chr8:96380353-96501647	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1030659	chr8:96380353-97142611	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2761450	chr8:96392380-96461950	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv611760	chr8:96428448-96607028	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96441800-96444400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:96441800-96444400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:96442400-96443800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:96442400-96444000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:96442400-96444000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:96442400-96444200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:96442400-96444400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:96442600-96443800	Enhancers	Left Ventricle	heart
9	chr8:96442600-96444000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:96442600-96444200	Enhancers	HSMMtube	muscle
11	chr8:96442800-96443800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:96442800-96443800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:96442800-96443800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:96442800-96444000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:96442800-96444200	Enhancers	Brain Germinal Matrix	brain
16	chr8:96442800-96444200	Enhancers	HSMM	muscle
17	chr8:96442800-96444200	Flanking Active TSS	Osteobl	bone
18	chr8:96442800-96444600	Enhancers	Fetal Stomach	stomach
19	chr8:96443000-96443800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:96443000-96443800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr8:96443000-96444000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:96443000-96444200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:96443000-96444200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:96443000-96444200	Active TSS	Brain Hippocampus Middle	brain
25	chr8:96443000-96444200	Active TSS	Brain Substantia Nigra	brain
26	chr8:96443200-96444000	Active TSS	Aorta	Aorta
27	chr8:96443200-96444000	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr8:96443200-96444200	Active TSS	Brain Anterior Caudate	brain
29	chr8:96443200-96447800	Weak transcription	Fetal Lung	lung
30	chr8:96443400-96443800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:96443400-96443800	Flanking Active TSS	Ovary	ovary
32	chr8:96443400-96443800	Active TSS	Right Atrium	heart
33	chr8:96443400-96443800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:96443400-96444000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:96443400-96444000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:96443400-96444000	Active TSS	Colon Smooth Muscle	Colon
37	chr8:96443400-96445000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:96443600-96443800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:96443600-96443800	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr8:96443600-96443800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr8:96443600-96444000	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr8:96443600-96444000	Active TSS	Stomach Smooth Muscle	stomach
43	chr8:96443600-96444400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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