Variant report

Variant	rs564715419
Chromosome Location	chr9:103188603-103188604
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	MAX	chr9:103188564-103189602	HCT-116	colon:	n/a	chr9:103188955-103188964
2	STAT3	chr9:103187945-103189004	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254 chr9:103188810-103188822
3	MXI1	chr9:103188017-103189727	SK-N-SH	brain:	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	FOSL2	chr9:103188602-103189380	A549	lung:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965
10	TCF12	chr9:103188530-103189539	A549	lung:	n/a	n/a
11	RCOR1	chr9:103188510-103190318	K562	blood:	n/a	n/a
12	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
13	JUND	chr9:103188586-103189449	HCT-116	colon:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965 chr9:103188954-103188965
14	MAFK	chr9:103188530-103189150	HepG2	liver:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
15	MAFK	chr9:103188509-103189394	K562	blood:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
16	STAT3	chr9:103187990-103189032	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254 chr9:103188810-103188822
17	MYC	chr9:103188471-103190172	K562	blood:	n/a	chr9:103188955-103188964
18	CEBPB	chr9:103188275-103189337	Hela-S3	cervix:	n/a	chr9:103188703-103188714
19	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
20	POLR2A	chr9:103188479-103190412	H1-hESC	embryonic stem cell:	n/a	n/a
21	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
22	ARID3A	chr9:103188063-103189399	HepG2	liver:	n/a	n/a
23	CTCF	chr9:103188583-103189629	K562	blood:	n/a	chr9:103189359-103189368
24	CEBPB	chr9:103188581-103189030	HepG2	liver:	n/a	chr9:103188703-103188714
25	POLR2A	chr9:103188125-103192385	IMR90	lung:	n/a	n/a
26	POLR2A	chr9:103188525-103189634	K562	blood:	n/a	n/a
27	CEBPB	chr9:103188542-103189010	K562	blood:	n/a	chr9:103188703-103188714
28	FOSL1	chr9:103188489-103189473	HCT-116	colon:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965 chr9:103188954-103188965
29	POLR2A	chr9:103188385-103189384	U87	brain:	n/a	n/a
30	MAFK	chr9:103188480-103189150	H1-hESC	embryonic stem cell:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
31	BHLHE40	chr9:103188563-103189560	K562	blood:	n/a	chr9:103189368-103189384
32	RFX5	chr9:103188574-103189473	Hela-S3	cervix:	n/a	n/a
33	KAP1	chr9:103188063-103189338	HEK293	kidney:	n/a	chr9:103188805-103188813
34	POLR2A	chr9:103188318-103190317	HepG2	liver:	n/a	n/a
35	RAD21	chr9:103188442-103189644	IMR90	lung:	n/a	n/a
36	MAFF	chr9:103188600-103189207	K562	blood:	n/a	chr9:103188954-103188972
37	CHD1	chr9:103187954-103192506	IMR90	lung:	n/a	n/a
38	MAFK	chr9:103188520-103189181	Hela-S3	cervix:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
39	JUND	chr9:103188595-103189549	K562	blood:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965 chr9:103188954-103188965
40	SP1	chr9:103188424-103189457	A549	lung:	n/a	n/a
41	POLR2A	chr9:103188551-103189439	HepG2	liver:	n/a	n/a
42	POLR2A	chr9:103188519-103189640	HUVEC	blood vessel:	n/a	n/a
43	CEBPB	chr9:103188513-103189127	K562	blood:	n/a	chr9:103188703-103188714
44	BRCA1	chr9:103188584-103188964	HepG2	liver:	n/a	n/a
45	TCF7L2	chr9:103188591-103189367	Hela-S3	cervix:	n/a	chr9:103188956-103188965
46	ARID3A	chr9:103188363-103189299	K562	blood:	n/a	n/a
47	CEBPB	chr9:103188521-103189192	A549	lung:	n/a	chr9:103188703-103188714
48	CCNT2	chr9:103188565-103190134	K562	blood:	n/a	n/a
49	HCFC1	chr9:103188559-103190232	K562	blood:	n/a	n/a
50	CEBPB	chr9:103188599-103188919	A549	lung:	n/a	chr9:103188703-103188714

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
ENSG00000229117	Chromatin interaction
ENSG00000241697	Chromatin interaction
ENSG00000136891	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103174600-103188800	Weak transcription	Esophagus	oesophagus
2	chr9:103188000-103188800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:103188000-103188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:103188200-103188800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:103188200-103188800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr9:103188200-103188800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:103188200-103188800	Enhancers	Stomach Mucosa	stomach
8	chr9:103188200-103189000	Enhancers	Fetal Heart	heart
9	chr9:103188200-103189000	Flanking Active TSS	Hela-S3	cervix
10	chr9:103188200-103189000	Flanking Active TSS	HMEC	breast
11	chr9:103188200-103189000	Flanking Active TSS	NHEK	skin
12	chr9:103188400-103188800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:103188400-103188800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr9:103188400-103188800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr9:103188400-103188800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:103188400-103188800	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr9:103188400-103188800	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:103188400-103188800	Enhancers	Duodenum Mucosa	Duodenum
19	chr9:103188400-103188800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr9:103188400-103188800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr9:103188400-103188800	Flanking Active TSS	HSMMtube	muscle
22	chr9:103188400-103189000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:103188400-103189000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:103188400-103189200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:103188400-103189200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr9:103188400-103189200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:103188400-103189200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:103188400-103189200	Flanking Active TSS	HUVEC	blood vessel
29	chr9:103188400-103189800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:103188400-103190200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:103188400-103190200	Active TSS	HepG2	liver
32	chr9:103188400-103190600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr9:103188400-103191000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:103188600-103188800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:103188600-103188800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:103188600-103188800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr9:103188600-103188800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr9:103188600-103188800	Enhancers	Primary B cells from peripheral blood	blood
39	chr9:103188600-103188800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr9:103188600-103188800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr9:103188600-103188800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr9:103188600-103188800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:103188600-103188800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr9:103188600-103188800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:103188600-103188800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr9:103188600-103188800	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr9:103188600-103188800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr9:103188600-103188800	Flanking Active TSS	Aorta	Aorta
49	chr9:103188600-103188800	Enhancers	Brain Hippocampus Middle	brain
50	chr9:103188600-103188800	Flanking Active TSS	Fetal Intestine Large	intestine

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