Variant report

Variant	rs545925314
Chromosome Location	chr8:49537580-49537581
allele	A/C
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	GATA2	chr8:49537409-49537924	SH-SY5Y	brain:	n/a	chr8:49537590-49537599
2	FOXP2	chr8:49537288-49537749	PFSK-1	brain:	n/a	n/a
3	GATA2	chr8:49537474-49537766	HUVEC	blood vessel:	n/a	chr8:49537590-49537599
4	GATA3	chr8:49537489-49537839	SH-SY5Y	brain:	n/a	chr8:49537590-49537599

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49533286..49535227-chr8:49536335..49539012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253702	TF binding region
ENSG00000253702	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361307	chr8:49536599-49540897	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49526400-49537800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:49533800-49537600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:49534000-49538600	Weak transcription	Fetal Kidney	kidney
4	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
5	chr8:49534600-49538600	Weak transcription	Fetal Lung	lung
6	chr8:49534600-49538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:49534600-49538800	Weak transcription	Hela-S3	cervix
8	chr8:49534600-49539000	Weak transcription	A549	lung
9	chr8:49534600-49539800	Weak transcription	HSMM	muscle
10	chr8:49534600-49539800	Weak transcription	NH-A	brain
11	chr8:49534600-49539800	Weak transcription	Osteobl	bone
12	chr8:49534600-49540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:49534600-49543000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:49534800-49539000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:49534800-49539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:49534800-49539800	Weak transcription	NHLF	lung
17	chr8:49534800-49540000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:49535200-49539800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:49535200-49541000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:49535200-49541600	Weak transcription	Gastric	stomach
21	chr8:49535400-49537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:49535800-49537600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:49536400-49539200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:49536600-49539800	Weak transcription	NHDF-Ad	bronchial
25	chr8:49536800-49537800	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:49536800-49538200	Enhancers	Right Ventricle	heart
27	chr8:49536800-49538400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr8:49537000-49538000	Enhancers	Adipose Nuclei	Adipose
29	chr8:49537000-49539200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:49537200-49538000	Enhancers	Spleen	Spleen
31	chr8:49537200-49538200	Enhancers	HUVEC	blood vessel
32	chr8:49537400-49537800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:49537400-49538000	Enhancers	Left Ventricle	heart
34	chr8:49537400-49538000	Enhancers	Right Atrium	heart
35	chr8:49537400-49538200	Enhancers	Lung	lung
36	chr8:49537400-49538400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr8:49537400-49541800	Enhancers	Placenta	Placenta

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