Variant report

Variant	rs549718279
Chromosome Location	chr8:125313532-125313533
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	POLR2A	chr8:125313362-125314142	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr8:125313515-125314100	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:125313420-125313726	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000237586	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3344377	chr8:125313371-125316194	Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125301400-125329800	Weak transcription	HSMMtube	muscle
2	chr8:125304400-125313600	Weak transcription	Left Ventricle	heart
3	chr8:125304600-125317800	Weak transcription	Fetal Heart	heart
4	chr8:125306200-125328000	Weak transcription	A549	lung
5	chr8:125309400-125331000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:125311200-125333600	Weak transcription	Right Ventricle	heart
7	chr8:125312000-125320200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:125312000-125323800	Weak transcription	Aorta	Aorta
9	chr8:125312000-125330800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:125312400-125313600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:125312400-125319400	Weak transcription	Primary T cells from cord blood	blood
12	chr8:125312400-125331000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:125312600-125326000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:125312600-125328000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:125312600-125329800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:125312600-125329800	Weak transcription	Thymus	Thymus
17	chr8:125312600-125330000	Weak transcription	Fetal Stomach	stomach
18	chr8:125312600-125333000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:125312800-125316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:125312800-125319200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:125312800-125323600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:125312800-125329800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:125312800-125329800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:125312800-125331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:125312800-125337800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:125313400-125313600	Flanking Active TSS	Placenta	Placenta
28	chr8:125313400-125314200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:125313400-125314200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:125313400-125314200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:125313400-125329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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