Variant report

Variant	rs116323203
Chromosome Location	chr2:153578440-153578441
allele	A/G
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:110 , 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	chr2:153576000-153579200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:153576000-153581200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
9	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153576200-153578600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:153576600-153587000	Weak transcription	Placenta	Placenta
13	chr2:153576800-153578800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:153576800-153581200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:153576800-153581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:153576800-153585200	Weak transcription	Fetal Stomach	stomach
17	chr2:153576800-153587200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:153576800-153591400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:153576800-153592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:153576800-153592800	Weak transcription	NH-A	brain
21	chr2:153577000-153578600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:153577000-153578800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:153577000-153578800	Genic enhancers	HepG2	liver
24	chr2:153577000-153579200	Weak transcription	Right Ventricle	heart
25	chr2:153577000-153579400	Weak transcription	HMEC	breast
26	chr2:153577000-153582800	Weak transcription	Psoas Muscle	Psoas
27	chr2:153577000-153586400	Weak transcription	NHEK	skin
28	chr2:153577000-153587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:153577000-153592600	Weak transcription	Fetal Intestine Large	intestine
30	chr2:153577000-153592800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:153577000-153593000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:153577000-153593000	Weak transcription	Osteobl	bone
33	chr2:153577000-153594400	Weak transcription	Aorta	Aorta
34	chr2:153577000-153594600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:153577000-153595000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:153577200-153578800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:153577200-153578800	Enhancers	Colon Smooth Muscle	Colon
38	chr2:153577200-153579000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:153577200-153579600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:153577200-153579800	Weak transcription	NHDF-Ad	bronchial
41	chr2:153577200-153580200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:153577200-153583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:153577200-153584600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:153577200-153584800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:153577200-153586200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:153577200-153586400	Weak transcription	Primary T cells from cord blood	blood
47	chr2:153577200-153587000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:153577200-153592800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:153577200-153593000	Weak transcription	Fetal Kidney	kidney
50	chr2:153577200-153593000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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