Variant report

Variant	rs146696970
Chromosome Location	chr9:117374516-117374517
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	RCOR1	chr9:117373898-117374626	Hela-S3	cervix:	n/a	n/a
3	STAT5A	chr9:117373830-117374580	GM12878	blood:	n/a	n/a
4	MAFK	chr9:117374162-117374798	K562	blood:	n/a	chr9:117374619-117374635 chr9:117374620-117374634 chr9:117374617-117374637 chr9:117374617-117374628
5	ZKSCAN1	chr9:117373893-117374739	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr9:117373187-117375071	GM18505	blood:	n/a	n/a
7	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
8	POLR2A	chr9:117372694-117376306	GM12878	blood:	n/a	n/a
9	CEBPB	chr9:117374297-117374687	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr9:117372677-117374910	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr9:117374229-117374807	MCF-7	breast:	n/a	chr9:117374771-117374784
12	MXI1	chr9:117372626-117375023	SK-N-SH	brain:	n/a	n/a
13	MTA3	chr9:117373827-117376338	GM12878	blood:	n/a	n/a
14	CEBPD	chr9:117374421-117374657	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:117374356-117374611	HepG2	liver:	n/a	n/a
16	GATA3	chr9:117374385-117375621	T-47D	breast:	n/a	n/a
17	CEBPB	chr9:117374331-117374628	HepG2	liver:	n/a	n/a
18	MYC	chr9:117374053-117374524	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr9:117372834-117374943	Raji	blood:	n/a	n/a
20	POLR2A	chr9:117372699-117374807	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:117372812-117374632	K562	blood:	n/a	n/a
23	POLR2A	chr9:117372678-117374603	MCF10A-Er-Src	breast:	n/a	n/a
24	MAFK	chr9:117374493-117374736	HepG2	liver:	n/a	chr9:117374619-117374635 chr9:117374620-117374634 chr9:117374617-117374637 chr9:117374617-117374628
25	TBP	chr9:117373033-117374735	K562	blood:	n/a	n/a
26	MAX	chr9:117373046-117374615	K562	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
27	EP300	chr9:117374065-117374772	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:117372785-117374526	K562	blood:	n/a	n/a
29	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr9:117374380-117374530	AG04449	skin:	n/a	n/a
31	IRF1	chr9:117374017-117374805	K562	blood:	n/a	chr9:117374146-117374160
32	POLR2A	chr9:117373831-117374666	GM12892	blood:	n/a	n/a
33	MTA3	chr9:117374045-117374947	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:117373190-117374563	GM12878	blood:	n/a	n/a
35	RFX5	chr9:117373874-117374562	Hela-S3	cervix:	n/a	n/a
36	MAFF	chr9:117374470-117374774	HepG2	liver:	n/a	chr9:117374621-117374639 chr9:117374620-117374634
37	ZNF143	chr9:117373378-117374590	GM12878	blood:	n/a	n/a
38	MAX	chr9:117373014-117374518	HCT-116	colon:	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
39	CEBPB	chr9:117374340-117374629	K562	blood:	n/a	n/a
40	BCLAF1	chr9:117373923-117374715	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
41	MAFK	chr9:117374479-117374768	HepG2	liver:	n/a	chr9:117374619-117374635 chr9:117374620-117374634 chr9:117374617-117374637 chr9:117374617-117374628
42	POLR2A	chr9:117372573-117376345	GM12878	blood:	n/a	n/a
43	GTF2F1	chr9:117373993-117374550	Hela-S3	cervix:	n/a	n/a
44	STAT1	chr9:117373967-117374553	GM12878	blood:	n/a	n/a
45	POLR2A	chr9:117373183-117374995	GM19193	blood:	n/a	n/a
46	GATA3	chr9:117374404-117375187	T-47D	breast:	n/a	n/a
47	SIN3A	chr9:117373241-117374516	GM12878	blood:	n/a	chr9:117373599-117373612 chr9:117373592-117373603
48	RCOR1	chr9:117374067-117374693	GM12878	blood:	n/a	n/a
49	JUND	chr9:117373084-117374828	K562	blood:	n/a	chr9:117373646-117373655
50	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

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
ENSG00000136888	Chromatin interaction
ENSG00000201749	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000095397	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117373200-117374600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:117373200-117374600	Active TSS	Left Ventricle	heart
3	chr9:117373200-117374600	Active TSS	Right Atrium	heart
4	chr9:117373200-117374800	Active TSS	Ovary	ovary
5	chr9:117373200-117375000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr9:117373400-117374600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:117373400-117374600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:117373400-117374600	Active TSS	Esophagus	oesophagus
9	chr9:117373400-117374600	Active TSS	Fetal Brain Female	brain
10	chr9:117373400-117374600	Active TSS	Fetal Kidney	kidney
11	chr9:117373400-117374600	Active TSS	Gastric	stomach
12	chr9:117373400-117374600	Active TSS	Pancreas	Pancrea
13	chr9:117373400-117374600	Active TSS	Placenta Amnion	Placenta Amnion
14	chr9:117373400-117374600	Active TSS	Spleen	Spleen
15	chr9:117373400-117374600	Active TSS	GM12878-XiMat	blood
16	chr9:117373400-117374800	Active TSS	Aorta	Aorta
17	chr9:117373400-117375200	Active TSS	Brain Angular Gyrus	brain
18	chr9:117373600-117374600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:117373600-117374600	Active TSS	Brain Germinal Matrix	brain
20	chr9:117373600-117374600	Active TSS	Thymus	Thymus
21	chr9:117373600-117374600	Active TSS	Dnd41	blood
22	chr9:117374000-117374600	Flanking Active TSS	Liver	Liver
23	chr9:117374000-117374600	Active TSS	Fetal Brain Male	brain
24	chr9:117374000-117374600	Active TSS	Stomach Mucosa	stomach
25	chr9:117374000-117374800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:117374000-117374800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:117374000-117374800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr9:117374000-117374800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr9:117374000-117374800	Flanking Active TSS	HUVEC	blood vessel
30	chr9:117374000-117375000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr9:117374000-117375000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr9:117374000-117375000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:117374000-117375000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:117374000-117375200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:117374000-117375400	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr9:117374000-117376000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr9:117374000-117376200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr9:117374200-117374600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr9:117374200-117374600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:117374200-117374600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr9:117374200-117374600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr9:117374200-117374600	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr9:117374200-117374600	Flanking Active TSS	HMEC	breast
46	chr9:117374200-117374800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:117374200-117374800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:117374200-117374800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:117374200-117374800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr9:117374200-117374800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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