Variant report

Variant	rs539685197
Chromosome Location	chr6:146058430-146058431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

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
2	GATA3	chr6:146058369-146058567	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr6:146057672-146058515	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:146054881..146058754-chr6:146284576..146286666,3	K562	blood:
2	chr6:146051601..146058492-chr6:146282422..146286666,8	K562	blood:
3	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
4	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270828	TF binding region
EPM2A	TF binding region
ENSG00000146414	Chromatin interaction
ENSG00000235652	Chromatin interaction
ENSG00000118496	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:37 , 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	chr6:146057400-146058600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:146057400-146058600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:146057400-146058600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:146057600-146058600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:146057600-146058600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:146057600-146058600	Enhancers	Fetal Intestine Small	intestine
9	chr6:146057600-146058600	Enhancers	Fetal Kidney	kidney
10	chr6:146057600-146058800	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr6:146057600-146058800	Enhancers	Fetal Intestine Large	intestine
12	chr6:146057800-146058600	Enhancers	Adipose Nuclei	Adipose
13	chr6:146057800-146058800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:146058000-146058600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:146058000-146058600	Active TSS	NHDF-Ad	bronchial
16	chr6:146058000-146058800	Enhancers	Fetal Brain Male	brain
17	chr6:146058200-146058600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:146058200-146058600	Enhancers	Fetal Lung	lung
19	chr6:146058200-146058800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:146058200-146058800	Enhancers	Fetal Stomach	stomach
21	chr6:146058200-146058800	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr6:146058200-146059000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:146058200-146067600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:146058400-146058600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:146058400-146058600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:146058400-146058600	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:146058400-146058600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:146058400-146058600	Enhancers	Brain Anterior Caudate	brain
29	chr6:146058400-146058600	Enhancers	Brain Germinal Matrix	brain
30	chr6:146058400-146058600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:146058400-146058600	Enhancers	HSMMtube	muscle
32	chr6:146058400-146058800	Enhancers	Fetal Brain Female	brain
33	chr6:146058400-146058800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr6:146058400-146059200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:146058400-146063000	Weak transcription	Thymus	Thymus
36	chr6:146058400-146064600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:146058400-146065200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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