Variant report

Variant	rs541195802
Chromosome Location	chr2:153578186-153578187
allele	G/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	CEBPB	chr2:153578170-153578809	K562	blood:	n/a	n/a
2	GATA3	chr2:153578158-153578564	SH-SY5Y	brain:	n/a	n/a
3	CUX1	chr2:153578056-153578689	K562	blood:	n/a	n/a
4	GATA1	chr2:153578032-153578886	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153574994..153576922-chr2:153576951..153581012,5	MCF-7	breast:

Variant related genes	Relation type
PRPF40A	TF binding region
ENSG00000177917	Chromatin interaction

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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1798142	chr2:153578113-153600123	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153582800	Weak transcription	Lung	lung
2	chr2:153575800-153587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
5	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
6	chr2:153576000-153578400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:153576000-153579200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:153576000-153581200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
10	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:153576200-153578200	Weak transcription	HSMM	muscle
12	chr2:153576200-153578400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:153576200-153578400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:153576200-153578600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:153576600-153578200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:153576600-153578200	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr2:153576600-153578400	Enhancers	Primary B cells from cord blood	blood
19	chr2:153576600-153587000	Weak transcription	Placenta	Placenta
20	chr2:153576800-153578800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:153576800-153581200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:153576800-153581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:153576800-153585200	Weak transcription	Fetal Stomach	stomach
24	chr2:153576800-153587200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:153576800-153591400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:153576800-153592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:153576800-153592800	Weak transcription	NH-A	brain
28	chr2:153577000-153578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:153577000-153578200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:153577000-153578600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:153577000-153578800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:153577000-153578800	Genic enhancers	HepG2	liver
33	chr2:153577000-153579200	Weak transcription	Right Ventricle	heart
34	chr2:153577000-153579400	Weak transcription	HMEC	breast
35	chr2:153577000-153582800	Weak transcription	Psoas Muscle	Psoas
36	chr2:153577000-153586400	Weak transcription	NHEK	skin
37	chr2:153577000-153587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:153577000-153592600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:153577000-153592800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:153577000-153593000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:153577000-153593000	Weak transcription	Osteobl	bone
42	chr2:153577000-153594400	Weak transcription	Aorta	Aorta
43	chr2:153577000-153594600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:153577000-153595000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:153577200-153578200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:153577200-153578200	Weak transcription	Fetal Heart	heart
47	chr2:153577200-153578200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:153577200-153578400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:153577200-153578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:153577200-153578800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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