Variant report

Variant	rs562546915
Chromosome Location	chr9:117374697-117374698
allele	C/T
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	chr9:117374119-117374760	K562	blood:	n/a	n/a
2	MAFK	chr9:117374162-117374798	K562	blood:	n/a	chr9:117374619-117374635 chr9:117374620-117374634 chr9:117374617-117374637 chr9:117374617-117374628
3	ZKSCAN1	chr9:117373893-117374739	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:117373187-117375071	GM18505	blood:	n/a	n/a
5	MAX	chr9:117373043-117375259	MCF-7	breast:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
6	POLR2A	chr9:117372694-117376306	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:117372677-117374910	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr9:117374229-117374807	MCF-7	breast:	n/a	chr9:117374771-117374784
9	MXI1	chr9:117372626-117375023	SK-N-SH	brain:	n/a	n/a
10	MTA3	chr9:117373827-117376338	GM12878	blood:	n/a	n/a
11	GATA3	chr9:117374385-117375621	T-47D	breast:	n/a	n/a
12	POLR2A	chr9:117372834-117374943	Raji	blood:	n/a	n/a
13	POLR2A	chr9:117372699-117374807	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
15	FOXM1	chr9:117374667-117375651	GM12878	blood:	n/a	n/a
16	MAFK	chr9:117374493-117374736	HepG2	liver:	n/a	chr9:117374619-117374635 chr9:117374620-117374634 chr9:117374617-117374637 chr9:117374617-117374628
17	TBP	chr9:117373033-117374735	K562	blood:	n/a	n/a
18	EP300	chr9:117374065-117374772	GM12878	blood:	n/a	n/a
19	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a
20	IRF1	chr9:117374017-117374805	K562	blood:	n/a	chr9:117374146-117374160
21	MTA3	chr9:117374045-117374947	GM12878	blood:	n/a	n/a
22	MAFF	chr9:117374470-117374774	HepG2	liver:	n/a	chr9:117374621-117374639 chr9:117374620-117374634
23	ELF1	chr9:117374661-117375014	K562	blood:	n/a	n/a
24	BCLAF1	chr9:117373923-117374715	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
25	MAFK	chr9:117374479-117374768	HepG2	liver:	n/a	chr9:117374619-117374635 chr9:117374620-117374634 chr9:117374617-117374637 chr9:117374617-117374628
26	POLR2A	chr9:117372573-117376345	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:117373183-117374995	GM19193	blood:	n/a	n/a
28	GATA3	chr9:117374404-117375187	T-47D	breast:	n/a	n/a
29	JUND	chr9:117373084-117374828	K562	blood:	n/a	chr9:117373646-117373655
30	MAX	chr9:117373113-117374756	NB4	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
31	CEBPB	chr9:117374116-117374893	A549	lung:	n/a	chr9:117374771-117374784
32	BHLHE40	chr9:117373914-117374712	GM12878	blood:	n/a	n/a
33	WRNIP1	chr9:117374148-117377038	GM12878	blood:	n/a	n/a
34	EBF1	chr9:117374660-117375089	GM12878	blood:	n/a	n/a
35	CTCF	chr9:117374660-117374810	HCPEpiC	choroid plexus:	n/a	chr9:117374710-117374723
36	POLR2A	chr9:117373148-117374986	GM12892	blood:	n/a	n/a
37	STAT5A	chr9:117374655-117375282	GM12878	blood:	n/a	n/a
38	POLR2A	chr9:117374677-117374843	ProgFib	skin:	n/a	n/a
39	CEBPD	chr9:117374363-117374703	HepG2	liver:	n/a	n/a
40	MYC	chr9:117372909-117374713	NB4	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
41	MAX	chr9:117372765-117375754	GM12878	blood:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
42	CEBPB	chr9:117374320-117375088	HepG2	liver:	n/a	chr9:117374771-117374784
43	POLR2A	chr9:117372721-117376079	GM12891	blood:	n/a	n/a
44	MAZ	chr9:117373067-117375262	IMR90	lung:	n/a	chr9:117373514-117373521 chr9:117373512-117373522 chr9:117373568-117373577 chr9:117373513-117373523 chr9:117373513-117373522 chr9:117373512-117373523 chr9:117373514-117373523 chr9:117373511-117373524
45	RELA	chr9:117374015-117374889	GM18951	blood:	n/a	n/a
46	CEBPB	chr9:117374293-117374752	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr9:117373969-117374855	Hela-S3	cervix:	n/a	chr9:117374771-117374784
48	POLR2A	chr9:117372060-117376570	GM12878	blood:	n/a	n/a
49	TEAD4	chr9:117373841-117374772	K562	blood:	n/a	n/a
50	ZNF263	chr9:117373966-117375344	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:117373836..117375707-chr9:117400853..117402924,2	MCF-7	breast:
2	chr9:117291759..117293963-chr9:117373811..117375856,2	K562	blood:
3	chr9:117372326..117374917-chr9:117375396..117377851,3	K562	blood:
4	chr9:117189063..117191201-chr9:117373805..117375386,2	K562	blood:
5	chr9:117372569..117375010-chr9:117403560..117405565,3	MCF-7	breast:
6	chr9:117374384..117377233-chr9:117400977..117403274,2	K562	blood:
7	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
8	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
9	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
10	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
11	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
12	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
13	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272241	TF binding region
ENSG00000095397	Chromatin interaction
ENSG00000201749	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000136888	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
20	nsv1047704	chr9:116978041-117399362	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv540205	chr9:116978041-117399362	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv530950	chr9:117009156-117399361	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	nsv916139	chr9:117009169-117399454	Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
24	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
26	esv3373120	chr9:117372756-117375304	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	esv1008480	chr9:117373830-117388680	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117373200-117374800	Active TSS	Ovary	ovary
2	chr9:117373200-117375000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr9:117373400-117374800	Active TSS	Aorta	Aorta
4	chr9:117373400-117375200	Active TSS	Brain Angular Gyrus	brain
5	chr9:117374000-117374800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:117374000-117374800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:117374000-117374800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr9:117374000-117374800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr9:117374000-117374800	Flanking Active TSS	HUVEC	blood vessel
10	chr9:117374000-117375000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr9:117374000-117375000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr9:117374000-117375000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:117374000-117375000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:117374000-117375200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:117374000-117375400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr9:117374000-117376000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr9:117374000-117376200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr9:117374200-117374800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:117374200-117374800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:117374200-117374800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:117374200-117374800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr9:117374200-117374800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr9:117374200-117374800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:117374200-117374800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr9:117374200-117374800	Enhancers	Fetal Heart	heart
28	chr9:117374200-117374800	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr9:117374200-117374800	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr9:117374200-117374800	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr9:117374200-117374800	Flanking Active TSS	Fetal Thymus	thymus
32	chr9:117374200-117374800	Flanking Active TSS	HSMM	muscle
33	chr9:117374200-117374800	Flanking Active TSS	HSMMtube	muscle
34	chr9:117374200-117374800	Flanking Active TSS	NH-A	brain
35	chr9:117374200-117374800	Flanking Active TSS	NHEK	skin
36	chr9:117374200-117375000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr9:117374200-117375000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:117374200-117375000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr9:117374200-117375000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:117374200-117375000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:117374200-117375000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr9:117374200-117375000	Flanking Active TSS	Fetal Lung	lung
43	chr9:117374200-117375000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr9:117374200-117375000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr9:117374200-117375000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr9:117374200-117375000	Flanking Active TSS	A549	lung
47	chr9:117374200-117375000	Flanking Active TSS	K562	blood
48	chr9:117374200-117375000	Flanking Active TSS	Osteobl	bone
49	chr9:117374200-117375200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr9:117374200-117375200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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