Variant report

Variant	rs186044465
Chromosome Location	chr9:117374374-117374375
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	CEBPB	chr9:117374119-117374760	K562	blood:	n/a	n/a
2	HCFC1	chr9:117372765-117374497	K562	blood:	n/a	n/a
3	RCOR1	chr9:117373898-117374626	Hela-S3	cervix:	n/a	n/a
4	STAT5A	chr9:117373830-117374580	GM12878	blood:	n/a	n/a
5	MAFK	chr9:117374162-117374798	K562	blood:	n/a	chr9:117374619-117374635 chr9:117374620-117374634 chr9:117374617-117374637 chr9:117374617-117374628
6	REST	chr9:117373893-117374412	ECC-1	luminal epithelium:	n/a	chr9:117374136-117374145
7	MAZ	chr9:117373281-117374501	Hela-S3	cervix:	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	ZKSCAN1	chr9:117373893-117374739	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr9:117373187-117375071	GM18505	blood:	n/a	n/a
10	MAX	chr9:117373192-117374396	SK-N-SH	brain:	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
11	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
12	POLR2A	chr9:117372694-117376306	GM12878	blood:	n/a	n/a
13	CEBPB	chr9:117374297-117374687	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr9:117372677-117374910	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr9:117374229-117374807	MCF-7	breast:	n/a	chr9:117374771-117374784
16	MXI1	chr9:117372626-117375023	SK-N-SH	brain:	n/a	n/a
17	MTA3	chr9:117373827-117376338	GM12878	blood:	n/a	n/a
18	CEBPB	chr9:117374356-117374611	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:117374331-117374628	HepG2	liver:	n/a	n/a
20	MYC	chr9:117374053-117374524	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr9:117372834-117374943	Raji	blood:	n/a	n/a
22	POLR2A	chr9:117372699-117374807	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:117372812-117374632	K562	blood:	n/a	n/a
25	POLR2A	chr9:117372678-117374603	MCF10A-Er-Src	breast:	n/a	n/a
26	TBP	chr9:117373033-117374735	K562	blood:	n/a	n/a
27	TBP	chr9:117373987-117374400	Hela-S3	cervix:	n/a	n/a
28	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
29	POLR2A	chr9:117373179-117374465	GM18526	blood:	n/a	n/a
30	EP300	chr9:117374065-117374772	GM12878	blood:	n/a	n/a
31	PBX3	chr9:117373823-117374412	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr9:117372785-117374526	K562	blood:	n/a	n/a
33	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a
34	IRF1	chr9:117374017-117374805	K562	blood:	n/a	chr9:117374146-117374160
35	POLR2A	chr9:117373831-117374666	GM12892	blood:	n/a	n/a
36	MTA3	chr9:117374045-117374947	GM12878	blood:	n/a	n/a
37	POLR2A	chr9:117373190-117374563	GM12878	blood:	n/a	n/a
38	RFX5	chr9:117373874-117374562	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr9:117373378-117374590	GM12878	blood:	n/a	n/a
40	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
41	CEBPB	chr9:117374340-117374629	K562	blood:	n/a	n/a
42	BCLAF1	chr9:117373923-117374715	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
43	POLR2A	chr9:117372573-117376345	GM12878	blood:	n/a	n/a
44	GTF2F1	chr9:117373993-117374550	Hela-S3	cervix:	n/a	n/a
45	STAT1	chr9:117373967-117374553	GM12878	blood:	n/a	n/a
46	UBTF	chr9:117373266-117374481	K562	blood:	n/a	n/a
47	POLR2A	chr9:117373183-117374995	GM19193	blood:	n/a	n/a
48	MYC	chr9:117373182-117374428	A549	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
49	SIN3A	chr9:117373241-117374516	GM12878	blood:	n/a	chr9:117373599-117373612 chr9:117373592-117373603
50	RCOR1	chr9:117374067-117374693	GM12878	blood:	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	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
7	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
8	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
9	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
10	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
11	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
12	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272241	TF binding region
ENSG00000201749	Chromatin interaction
ENSG00000095397	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117373200-117374400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:117373200-117374400	Active TSS	Brain Anterior Caudate	brain
3	chr9:117373200-117374400	Active TSS	Psoas Muscle	Psoas
4	chr9:117373200-117374600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:117373200-117374600	Active TSS	Left Ventricle	heart
6	chr9:117373200-117374600	Active TSS	Right Atrium	heart
7	chr9:117373200-117374800	Active TSS	Ovary	ovary
8	chr9:117373200-117375000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:117373400-117374400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:117373400-117374400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr9:117373400-117374400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:117373400-117374400	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr9:117373400-117374400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:117373400-117374400	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr9:117373400-117374400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr9:117373400-117374400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr9:117373400-117374400	Active TSS	Brain Substantia Nigra	brain
18	chr9:117373400-117374400	Active TSS	Colon Smooth Muscle	Colon
19	chr9:117373400-117374400	Active TSS	Fetal Stomach	stomach
20	chr9:117373400-117374400	Active TSS	Rectal Smooth Muscle	rectum
21	chr9:117373400-117374400	Active TSS	Small Intestine	intestine
22	chr9:117373400-117374400	Active TSS	Hela-S3	cervix
23	chr9:117373400-117374400	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr9:117373400-117374400	Active TSS	NHDF-Ad	bronchial
25	chr9:117373400-117374600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:117373400-117374600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:117373400-117374600	Active TSS	Esophagus	oesophagus
28	chr9:117373400-117374600	Active TSS	Fetal Brain Female	brain
29	chr9:117373400-117374600	Active TSS	Fetal Kidney	kidney
30	chr9:117373400-117374600	Active TSS	Gastric	stomach
31	chr9:117373400-117374600	Active TSS	Pancreas	Pancrea
32	chr9:117373400-117374600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr9:117373400-117374600	Active TSS	Spleen	Spleen
34	chr9:117373400-117374600	Active TSS	GM12878-XiMat	blood
35	chr9:117373400-117374800	Active TSS	Aorta	Aorta
36	chr9:117373400-117375200	Active TSS	Brain Angular Gyrus	brain
37	chr9:117373600-117374400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:117373600-117374400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:117373600-117374400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr9:117373600-117374400	Active TSS	Placenta	Placenta
41	chr9:117373600-117374400	Active TSS	Lung	lung
42	chr9:117373600-117374400	Active TSS	Right Ventricle	heart
43	chr9:117373600-117374400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr9:117373600-117374400	Active TSS	Stomach Smooth Muscle	stomach
45	chr9:117373600-117374400	Active TSS	NHLF	lung
46	chr9:117373600-117374600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:117373600-117374600	Active TSS	Brain Germinal Matrix	brain
48	chr9:117373600-117374600	Active TSS	Thymus	Thymus
49	chr9:117373600-117374600	Active TSS	Dnd41	blood
50	chr9:117374000-117374400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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