Variant report

Variant	rs73334253
Chromosome Location	chr8:125152747-125152748
allele	A/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	STAT3	chr8:125152725-125152833	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:125152645-125153359	U87	brain:	n/a	n/a
3	POLR2A	chr8:125152645-125153304	U87	brain:	n/a	n/a
4	POLR2A	chr8:125152670-125153302	K562	blood:	n/a	n/a
5	POLR2A	chr8:125152719-125153347	U87	brain:	n/a	n/a
6	PML	chr8:125152742-125153324	K562	blood:	n/a	n/a
7	POLR2A	chr8:125152617-125153291	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr8:125151976-125152794	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:
2	chr8:125148218..125150368-chr8:125150810..125153533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250727	TF binding region
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57354698	0.89[AFR][1000 genomes]
rs59376438	1.00[AFR][1000 genomes]
rs73334210	0.90[AFR][1000 genomes]
rs73334212	1.00[AFR][1000 genomes]
rs73334224	0.90[AFR][1000 genomes]
rs73334231	1.00[AFR][1000 genomes]
rs73334234	0.90[AFR][1000 genomes]
rs73334252	1.00[AFR][1000 genomes]
rs73334254	1.00[AFR][1000 genomes]
rs73342330	1.00[AFR][1000 genomes]
rs73342332	1.00[AFR][1000 genomes]
rs73342344	1.00[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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125142200-125152800	Weak transcription	Gastric	stomach
2	chr8:125149200-125152800	Enhancers	Fetal Heart	heart
3	chr8:125150400-125165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:125151200-125153200	Weak transcription	NH-A	brain
5	chr8:125151200-125153400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:125151200-125153400	Weak transcription	Osteobl	bone
7	chr8:125151200-125153600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:125151200-125153800	Weak transcription	Right Atrium	heart
9	chr8:125151200-125154600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:125151200-125154800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:125151200-125157800	Weak transcription	Stomach Mucosa	stomach
12	chr8:125151200-125160000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:125151400-125154000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:125151400-125158000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:125151400-125159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:125151600-125153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:125151600-125154000	Weak transcription	Placenta	Placenta
18	chr8:125151800-125153800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:125151800-125154000	Enhancers	A549	lung
20	chr8:125151800-125157000	Weak transcription	Pancreas	Pancrea
21	chr8:125152400-125154200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:125152400-125154200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:125152600-125153000	Enhancers	Fetal Thymus	thymus
24	chr8:125152600-125154400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:125152600-125154400	Enhancers	NHDF-Ad	bronchial

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