Variant report

Variant	rs141161333
Chromosome Location	chr9:103188563-103188564
allele	C/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	POLR2A	chr9:103188402-103189449	PBDE	blood:	n/a	n/a
5	IRF1	chr9:103188546-103189434	K562	blood:	n/a	chr9:103188955-103188964 chr9:103189386-103189395
6	CEBPB	chr9:103188510-103189120	IMR90	lung:	n/a	chr9:103188703-103188714
7	POLR2A	chr9:103188563-103190189	K562	blood:	n/a	n/a
8	POLR2A	chr9:103188391-103189378	U87	brain:	n/a	n/a
9	TCF12	chr9:103188530-103189539	A549	lung:	n/a	n/a
10	RCOR1	chr9:103188510-103190318	K562	blood:	n/a	n/a
11	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
12	MAFK	chr9:103188530-103189150	HepG2	liver:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
13	MAFK	chr9:103188509-103189394	K562	blood:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
14	STAT3	chr9:103187990-103189032	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254 chr9:103188810-103188822
15	MYC	chr9:103188471-103190172	K562	blood:	n/a	chr9:103188955-103188964
16	CEBPB	chr9:103188275-103189337	Hela-S3	cervix:	n/a	chr9:103188703-103188714
17	REST	chr9:103188524-103191582	H1-neurons	neurons:	n/a	chr9:103189992-103190012 chr9:103191192-103191210 chr9:103189992-103190006 chr9:103190518-103190538 chr9:103189957-103189970 chr9:103190518-103190538 chr9:103191256-103191264 chr9:103191221-103191234
18	POLR2A	chr9:103188479-103190412	H1-hESC	embryonic stem cell:	n/a	n/a
19	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
20	ARID3A	chr9:103188063-103189399	HepG2	liver:	n/a	n/a
21	POLR2A	chr9:103188125-103192385	IMR90	lung:	n/a	n/a
22	POLR2A	chr9:103188525-103189634	K562	blood:	n/a	n/a
23	CEBPB	chr9:103188542-103189010	K562	blood:	n/a	chr9:103188703-103188714
24	FOSL1	chr9:103188489-103189473	HCT-116	colon:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965 chr9:103188954-103188965
25	POLR2A	chr9:103188385-103189384	U87	brain:	n/a	n/a
26	MAFK	chr9:103188480-103189150	H1-hESC	embryonic stem cell:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
27	BHLHE40	chr9:103188563-103189560	K562	blood:	n/a	chr9:103189368-103189384
28	KAP1	chr9:103188063-103189338	HEK293	kidney:	n/a	chr9:103188805-103188813
29	POLR2A	chr9:103188318-103190317	HepG2	liver:	n/a	n/a
30	RAD21	chr9:103188442-103189644	IMR90	lung:	n/a	n/a
31	CHD1	chr9:103187954-103192506	IMR90	lung:	n/a	n/a
32	MAFK	chr9:103188520-103189181	Hela-S3	cervix:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
33	SP1	chr9:103188424-103189457	A549	lung:	n/a	n/a
34	POLR2A	chr9:103188551-103189439	HepG2	liver:	n/a	n/a
35	POLR2A	chr9:103188519-103189640	HUVEC	blood vessel:	n/a	n/a
36	CEBPB	chr9:103188513-103189127	K562	blood:	n/a	chr9:103188703-103188714
37	ARID3A	chr9:103188363-103189299	K562	blood:	n/a	n/a
38	CEBPB	chr9:103188521-103189192	A549	lung:	n/a	chr9:103188703-103188714
39	HCFC1	chr9:103188559-103190232	K562	blood:	n/a	n/a
40	POLR2A	chr9:103188170-103190533	MCF10A-Er-Src	breast:	n/a	n/a
41	ZNF384	chr9:103188465-103189499	K562	blood:	n/a	n/a
42	TBL1XR1	chr9:103188210-103189549	K562	blood:	n/a	n/a
43	POLR2A	chr9:103188267-103190807	MCF10A-Er-Src	breast:	n/a	n/a
44	RCOR1	chr9:103188403-103189621	Hela-S3	cervix:	n/a	n/a
45	MAX	chr9:103188556-103189629	NB4	blood:	n/a	chr9:103188955-103188964
46	FOSL2	chr9:103188488-103189230	SK-N-SH	brain:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965
47	TBP	chr9:103188317-103189721	K562	blood:	n/a	n/a
48	POLR2A	chr9:103188547-103189422	SK-N-MC	brain:	n/a	n/a
49	BACH1	chr9:103188440-103190245	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr9:103188450-103190755	Hela-S3	cervix:	n/a	n/a

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	chr12:56510216..56511089-chr9:103188467..103189444,2	Hela-S3	cervix:
4	chr9:103187168..103189222-chr9:103356564..103358499,2	K562	blood:
5	chr9:103108891..103111879-chr9:103188016..103191736,3	K562	blood:
6	chr9:103113279..103116752-chr9:103187119..103190910,6	K562	blood:
7	chr9:103182521..103185122-chr9:103187370..103189359,3	K562	blood:
8	chr9:103185149..103186826-chr9:103187204..103188970,2	K562	blood:
9	chr9:103187999..103190908-chr9:103233595..103236918,6	MCF-7	breast:
10	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:
11	chr9:103112020..103116853-chr9:103187928..103193300,12	MCF-7	breast:
12	chr9:103113751..103117482-chr9:103187755..103190910,6	K562	blood:

Variant related genes	Relation type
MSANTD3	TF binding region
ENSG00000237461	Chromatin interaction
ENSG00000136891	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000241697	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:76 , 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	chr9:103188000-103188600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:103188000-103188600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:103188000-103188600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:103188000-103188600	Flanking Active TSS	A549	lung
9	chr9:103188000-103188600	Enhancers	K562	blood
10	chr9:103188000-103188600	Enhancers	NHLF	lung
11	chr9:103188000-103188800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:103188000-103188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr9:103188200-103188600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr9:103188200-103188600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr9:103188200-103188600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr9:103188200-103188600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:103188200-103188600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:103188200-103188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:103188200-103188600	Enhancers	Colon Smooth Muscle	Colon
20	chr9:103188200-103188600	Enhancers	Fetal Intestine Large	intestine
21	chr9:103188200-103188600	Enhancers	Fetal Lung	lung
22	chr9:103188200-103188600	Enhancers	Fetal Stomach	stomach
23	chr9:103188200-103188600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:103188200-103188600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:103188200-103188600	Enhancers	NH-A	brain
26	chr9:103188200-103188600	Enhancers	Osteobl	bone
27	chr9:103188200-103188800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:103188200-103188800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr9:103188200-103188800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr9:103188200-103188800	Enhancers	Stomach Mucosa	stomach
31	chr9:103188200-103189000	Enhancers	Fetal Heart	heart
32	chr9:103188200-103189000	Flanking Active TSS	Hela-S3	cervix
33	chr9:103188200-103189000	Flanking Active TSS	HMEC	breast
34	chr9:103188200-103189000	Flanking Active TSS	NHEK	skin
35	chr9:103188400-103188600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr9:103188400-103188600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr9:103188400-103188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:103188400-103188600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:103188400-103188600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:103188400-103188600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:103188400-103188600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:103188400-103188600	Enhancers	Primary hematopoietic stem cells	blood
43	chr9:103188400-103188600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:103188400-103188600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:103188400-103188600	Enhancers	Adipose Nuclei	Adipose
46	chr9:103188400-103188600	Enhancers	Liver	Liver
47	chr9:103188400-103188600	Enhancers	Brain Germinal Matrix	brain
48	chr9:103188400-103188600	Enhancers	Brain Substantia Nigra	brain
49	chr9:103188400-103188600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr9:103188400-103188600	Active TSS	Fetal Brain Female	brain

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