Variant report

Variant	rs555038232
Chromosome Location	chr9:103188383-103188384
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	STAT3	chr9:103187945-103189004	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254 chr9:103188810-103188822
2	MXI1	chr9:103188017-103189727	SK-N-SH	brain:	n/a	n/a
3	E2F4	chr9:103188335-103188574	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr9:103187934-103188542	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254
5	FOS	chr9:103188027-103189171	MCF10A-Er-Src	breast:	n/a	chr9:103188954-103188965 chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965
6	STAT3	chr9:103187990-103189032	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254 chr9:103188810-103188822
7	CEBPB	chr9:103188275-103189337	Hela-S3	cervix:	n/a	chr9:103188703-103188714
8	FOS	chr9:103188056-103189150	MCF10A-Er-Src	breast:	n/a	chr9:103188954-103188965 chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965
9	ARID3A	chr9:103188063-103189399	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:103188125-103192385	IMR90	lung:	n/a	n/a
11	FOS	chr9:103188063-103188469	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:103188055-103188475	MCF10A-Er-Src	breast:	n/a	n/a
13	KAP1	chr9:103188063-103189338	HEK293	kidney:	n/a	chr9:103188805-103188813
14	POLR2A	chr9:103188318-103190317	HepG2	liver:	n/a	n/a
15	CHD1	chr9:103187954-103192506	IMR90	lung:	n/a	n/a
16	ARID3A	chr9:103188363-103189299	K562	blood:	n/a	n/a
17	FOXA1	chr9:103188042-103188383	HepG2	liver:	n/a	n/a
18	POLR2A	chr9:103188170-103190533	MCF10A-Er-Src	breast:	n/a	n/a
19	TBL1XR1	chr9:103188210-103189549	K562	blood:	n/a	n/a
20	MYC	chr9:103188117-103188545	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr9:103188267-103190807	MCF10A-Er-Src	breast:	n/a	n/a
22	TBP	chr9:103188317-103189721	K562	blood:	n/a	n/a
23	MYC	chr9:103188168-103188464	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr9:103188036-103188537	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254

No.	Distal block	Cell Line	Cell type
1	chr9:102580552..102583439-chr9:103187663..103189259,2	MCF-7	breast:
2	chr9:103188255..103190992-chr9:103234182..103236159,2	MCF-7	breast:
3	chr9:103187168..103189222-chr9:103356564..103358499,2	K562	blood:
4	chr9:103108891..103111879-chr9:103188016..103191736,3	K562	blood:
5	chr9:103113279..103116752-chr9:103187119..103190910,6	K562	blood:
6	chr9:103182521..103185122-chr9:103187370..103189359,3	K562	blood:
7	chr9:103185149..103186826-chr9:103187204..103188970,2	K562	blood:
8	chr9:103187999..103190908-chr9:103233595..103236918,6	MCF-7	breast:
9	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:
10	chr9:103112020..103116853-chr9:103187928..103193300,12	MCF-7	breast:
11	chr9:103113751..103117482-chr9:103187755..103190910,6	K562	blood:

Variant related genes	Relation type
MSANTD3	TF binding region
ENSG00000136891	Chromatin interaction
ENSG00000241697	Chromatin interaction
ENSG00000237461	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv825012	chr9:103152205-103256281	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv614955	chr9:103181596-103261227	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3443911	chr9:103188156-103191004	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103174600-103188800	Weak transcription	Esophagus	oesophagus
2	chr9:103180400-103188600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:103182000-103188600	Weak transcription	HSMM	muscle
4	chr9:103184200-103188600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:103187600-103188400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:103188000-103188400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:103188000-103188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:103188000-103188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:103188000-103188400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:103188000-103188400	Enhancers	HUVEC	blood vessel
11	chr9:103188000-103188400	Enhancers	NHDF-Ad	bronchial
12	chr9:103188000-103188600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:103188000-103188600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:103188000-103188600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:103188000-103188600	Flanking Active TSS	A549	lung
16	chr9:103188000-103188600	Enhancers	K562	blood
17	chr9:103188000-103188600	Enhancers	NHLF	lung
18	chr9:103188000-103188800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:103188000-103188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr9:103188200-103188400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:103188200-103188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:103188200-103188400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:103188200-103188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:103188200-103188400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:103188200-103188400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:103188200-103188400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:103188200-103188400	Enhancers	Brain Angular Gyrus	brain
28	chr9:103188200-103188400	Flanking Active TSS	HepG2	liver
29	chr9:103188200-103188400	Enhancers	HSMMtube	muscle
30	chr9:103188200-103188600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr9:103188200-103188600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr9:103188200-103188600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr9:103188200-103188600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:103188200-103188600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr9:103188200-103188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:103188200-103188600	Enhancers	Colon Smooth Muscle	Colon
37	chr9:103188200-103188600	Enhancers	Fetal Intestine Large	intestine
38	chr9:103188200-103188600	Enhancers	Fetal Lung	lung
39	chr9:103188200-103188600	Enhancers	Fetal Stomach	stomach
40	chr9:103188200-103188600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr9:103188200-103188600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:103188200-103188600	Enhancers	NH-A	brain
43	chr9:103188200-103188600	Enhancers	Osteobl	bone
44	chr9:103188200-103188800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:103188200-103188800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr9:103188200-103188800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr9:103188200-103188800	Enhancers	Stomach Mucosa	stomach
48	chr9:103188200-103189000	Enhancers	Fetal Heart	heart
49	chr9:103188200-103189000	Flanking Active TSS	Hela-S3	cervix
50	chr9:103188200-103189000	Flanking Active TSS	HMEC	breast

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