Variant report

Variant	rs73254835
Chromosome Location	chr8:69244954-69244955
allele	A/T
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	ZNF263	chr8:69244077-69245054	HEK293-T-REx	kidney:	n/a	chr8:69244692-69244701
2	POLR2A	chr8:69244572-69245129	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr8:69244544-69245302	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000248801	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58633012	1.00[AFR][1000 genomes]
rs58890164	1.00[AFR][1000 genomes]
rs73254830	0.92[AFR][1000 genomes]
rs73254836	1.00[AFR][1000 genomes]
rs73254843	0.92[AFR][1000 genomes]
rs73262977	1.00[AFR][1000 genomes]
rs73262979	1.00[AFR][1000 genomes]
rs73683492	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv890979	chr8:69176154-69252417	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890980	chr8:69181681-69252417	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69242200-69246200	Active TSS	Brain Anterior Caudate	brain
2	chr8:69242200-69246200	Active TSS	Fetal Brain Female	brain
3	chr8:69242400-69245000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:69242400-69245000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:69242400-69245000	Active TSS	Brain Angular Gyrus	brain
6	chr8:69242400-69245200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:69242400-69245200	Active TSS	Brain Hippocampus Middle	brain
8	chr8:69242600-69245200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:69242600-69245200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:69242600-69245200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:69242600-69245200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:69242600-69245200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:69242600-69245200	Active TSS	Aorta	Aorta
14	chr8:69242800-69245000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr8:69242800-69245200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:69243200-69245000	Active TSS	Right Atrium	heart
17	chr8:69243200-69245200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr8:69243200-69245200	Active TSS	Brain Cingulate Gyrus	brain
19	chr8:69243400-69245800	Active TSS	Fetal Brain Male	brain
20	chr8:69243600-69245000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:69244000-69245000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:69244000-69245000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:69244000-69245000	Active TSS	Duodenum Mucosa	Duodenum
24	chr8:69244000-69245000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr8:69244000-69245200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr8:69244200-69245000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:69244200-69245200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:69244200-69245400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:69244400-69245000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
30	chr8:69244600-69245000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:69244600-69245000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr8:69244600-69245000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:69244600-69245000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr8:69244600-69245000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:69244600-69245000	Enhancers	Brain Substantia Nigra	brain
36	chr8:69244600-69245000	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:69244800-69245000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:69244800-69245000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:69244800-69245000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
48	chr8:69244800-69245000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
49	chr8:69244800-69245000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr8:69244800-69245000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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