Variant report

Variant	rs554013988
Chromosome Location	chr5:44793870-44793871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:44792884..44795395-chr5:44807561..44809929,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251141	Chromatin interaction
ENSG00000112996	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv597933	chr5:44740989-44810740	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	n/a
5	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv3469184	chr5:44792995-44797493	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44785800-44795600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:44790800-44795000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:44791400-44798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:44792200-44794000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr5:44792200-44794400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:44792800-44794400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:44793000-44794800	ZNF genes & repeats	Ovary	ovary
8	chr5:44793200-44794400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:44793400-44794200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr5:44793400-44796800	ZNF genes & repeats	Hela-S3	cervix
11	chr5:44793600-44794000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:44793600-44794200	ZNF genes & repeats	Aorta	Aorta
13	chr5:44793600-44795600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:44793600-44796800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr5:44793800-44794000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr5:44793800-44794200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr5:44793800-44794200	Strong transcription	Brain Hippocampus Middle	brain
18	chr5:44793800-44794200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:44793800-44794200	ZNF genes & repeats	Fetal Lung	lung
20	chr5:44793800-44794400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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