Variant report

Variant	rs560738057
Chromosome Location	chr6:146058603-146058604
allele	C/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	chr6:146055289-146058747	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:146054881..146058754-chr6:146284576..146286666,3	K562	blood:
2	chr6:146055707..146058502-chr6:146058595..146061607,5	MCF-7	breast:
3	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
4	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:

Variant related genes	Relation type
EPM2A	TF binding region
ENSG00000270828	TF binding region
ENSG00000146414	Chromatin interaction
ENSG00000270828	Chromatin interaction
ENSG00000112425	Chromatin interaction
ENSG00000118496	Chromatin interaction
ENSG00000270638	Chromatin interaction
ENSG00000235652	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	nsv970354	chr6:146057495-146060252	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146055600-146058800	Active TSS	Aorta	Aorta
2	chr6:146057200-146063200	Weak transcription	Lung	lung
3	chr6:146057600-146058800	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr6:146057600-146058800	Enhancers	Fetal Intestine Large	intestine
5	chr6:146057800-146058800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:146058000-146058800	Enhancers	Fetal Brain Male	brain
7	chr6:146058200-146058800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:146058200-146058800	Enhancers	Fetal Stomach	stomach
9	chr6:146058200-146058800	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr6:146058200-146059000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:146058200-146067600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:146058400-146058800	Enhancers	Fetal Brain Female	brain
13	chr6:146058400-146058800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr6:146058400-146059200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:146058400-146063000	Weak transcription	Thymus	Thymus
16	chr6:146058400-146064600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:146058400-146065200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:146058600-146058800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:146058600-146058800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:146058600-146058800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:146058600-146059000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:146058600-146070600	Weak transcription	Primary hematopoietic stem cells	blood

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