Variant report

Variant	rs537203031
Chromosome Location	chr9:13145419-13145420
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	GATA3	chr9:13145225-13145808	SK-N-SH	brain:	n/a	chr9:13145497-13145506
2	GATA3	chr9:13145272-13145855	SK-N-SH	brain:	n/a	chr9:13145497-13145506
3	GATA3	chr9:13145276-13145799	SH-SY5Y	brain:	n/a	chr9:13145497-13145506
4	EP300	chr9:13145196-13145669	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr9:13144967-13145857	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MPDZ	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917331	chr9:12941193-13146852	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892582	chr9:13085379-13147764	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv528464	chr9:13137603-13147764	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv518837	chr9:13144078-13147764	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13103200-13163400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:13103200-13175600	Weak transcription	HepG2	liver
3	chr9:13106000-13153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:13121600-13225200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:13122600-13186400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:13135400-13223600	Weak transcription	Lung	lung
7	chr9:13136000-13192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:13136200-13149400	Weak transcription	Fetal Heart	heart
9	chr9:13137400-13152800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:13138200-13161000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:13138800-13159800	Weak transcription	Aorta	Aorta
12	chr9:13138800-13191800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:13139000-13188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:13139800-13147000	Weak transcription	Fetal Intestine Large	intestine
15	chr9:13139800-13147000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:13139800-13149600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:13139800-13174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:13140200-13146800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:13140200-13146800	Weak transcription	Left Ventricle	heart
20	chr9:13140200-13147400	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:13140200-13149000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:13140200-13149200	Weak transcription	HSMMtube	muscle
23	chr9:13140200-13149600	Weak transcription	Psoas Muscle	Psoas
24	chr9:13140200-13152000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:13140200-13152200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:13140200-13153600	Weak transcription	Fetal Intestine Small	intestine
27	chr9:13140200-13157000	Weak transcription	Placenta	Placenta
28	chr9:13140200-13161200	Weak transcription	Fetal Stomach	stomach
29	chr9:13140200-13167800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:13140200-13174800	Weak transcription	Right Ventricle	heart
31	chr9:13141000-13146800	Enhancers	Fetal Lung	lung
32	chr9:13141000-13146800	Weak transcription	HSMM	muscle
33	chr9:13141000-13147000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:13141000-13181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:13141000-13197800	Weak transcription	NHDF-Ad	bronchial
36	chr9:13141200-13188200	Weak transcription	NHLF	lung
37	chr9:13141400-13146800	Weak transcription	NH-A	brain
38	chr9:13141600-13147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:13142000-13146600	Weak transcription	Liver	Liver
40	chr9:13142000-13146800	Weak transcription	Osteobl	bone
41	chr9:13142200-13155800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:13143000-13145600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:13143000-13145600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:13143000-13146200	Enhancers	Fetal Brain Male	brain
45	chr9:13143200-13145600	Enhancers	Adipose Nuclei	Adipose
46	chr9:13143400-13145600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:13143600-13146000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:13143600-13146800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:13143600-13147000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:13143600-13149400	Weak transcription	A549	lung

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