Variant report

Variant	rs112245801
Chromosome Location	chr9:117374914-117374915
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	POLR2A	chr9:117373187-117375071	GM18505	blood:	n/a	n/a
2	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
3	POLR2A	chr9:117372694-117376306	GM12878	blood:	n/a	n/a
4	MXI1	chr9:117372626-117375023	SK-N-SH	brain:	n/a	n/a
5	MTA3	chr9:117373827-117376338	GM12878	blood:	n/a	n/a
6	GATA3	chr9:117374385-117375621	T-47D	breast:	n/a	n/a
7	POLR2A	chr9:117372834-117374943	Raji	blood:	n/a	n/a
8	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
9	FOXM1	chr9:117374667-117375651	GM12878	blood:	n/a	n/a
10	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a
11	MTA3	chr9:117374045-117374947	GM12878	blood:	n/a	n/a
12	RUNX3	chr9:117374797-117375984	GM12878	blood:	n/a	n/a
13	ELF1	chr9:117374661-117375014	K562	blood:	n/a	n/a
14	POLR2A	chr9:117372573-117376345	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:117373183-117374995	GM19193	blood:	n/a	n/a
16	GATA3	chr9:117374404-117375187	T-47D	breast:	n/a	n/a
17	WRNIP1	chr9:117374148-117377038	GM12878	blood:	n/a	n/a
18	EBF1	chr9:117374660-117375089	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:117373148-117374986	GM12892	blood:	n/a	n/a
20	STAT5A	chr9:117374655-117375282	GM12878	blood:	n/a	n/a
21	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
22	CEBPB	chr9:117374320-117375088	HepG2	liver:	n/a	chr9:117374771-117374784
23	POLR2A	chr9:117372721-117376079	GM12891	blood:	n/a	n/a
24	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
25	STAT1	chr9:117374853-117375620	GM12878	blood:	n/a	n/a
26	POLR2A	chr9:117372060-117376570	GM12878	blood:	n/a	n/a
27	ZNF263	chr9:117373966-117375344	HEK293-T-REx	kidney:	n/a	n/a
28	ELF1	chr9:117374566-117375136	GM12878	blood:	n/a	n/a
29	IRF1	chr9:117373938-117374932	K562	blood:	n/a	chr9:117374146-117374160
30	POU2F2	chr9:117374538-117375061	GM12878	blood:	n/a	n/a
31	EBF1	chr9:117374645-117375007	GM12878	blood:	n/a	n/a
32	USF2	chr9:117374866-117375042	GM12878	blood:	n/a	n/a
33	RUNX3	chr9:117373846-117375044	GM12878	blood:	n/a	n/a
34	FOXM1	chr9:117374885-117375837	GM12878	blood:	n/a	n/a
35	POLR2A	chr9:117374740-117375000	GM12878	blood:	n/a	n/a
36	ZNF143	chr9:117374828-117375660	GM12878	blood:	n/a	n/a
37	RCOR1	chr9:117373945-117375151	K562	blood:	n/a	n/a
38	POLR2A	chr9:117372912-117375060	GM19099	blood:	n/a	n/a
39	POLR2A	chr9:117373828-117376507	GM12878	blood:	n/a	n/a
40	MXI1	chr9:117373033-117376008	GM12878	blood:	n/a	n/a
41	CHD1	chr9:117372666-117375307	IMR90	lung:	n/a	n/a
42	POLR2A	chr9:117374883-117374918	MCF-7	breast:	n/a	n/a
43	MXI1	chr9:117372727-117375282	IMR90	lung:	n/a	n/a
44	CHD2	chr9:117374853-117375995	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	chr9:117374384..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	chr9:117248554..117250072-chr9:117374914..117376570,2	MCF-7	breast:
13	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:
14	chr9:117250118..117252252-chr9:117374718..117376331,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1G1-2	chr9:117374792-117377101	NONHSAT134388

Variant related genes	Relation type
ENSG00000272241	TF binding region
ENSG00000157693	Chromatin interaction
ENSG00000095397	Chromatin interaction
ENSG00000136888	Chromatin interaction
ENSG00000201749	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117373200-117375000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:117373400-117375200	Active TSS	Brain Angular Gyrus	brain
3	chr9:117374000-117375000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr9:117374000-117375000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr9:117374000-117375000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:117374000-117375000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:117374000-117375200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:117374000-117375400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr9:117374000-117376000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr9:117374000-117376200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr9:117374200-117375000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr9:117374200-117375000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:117374200-117375000	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr9:117374200-117375000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:117374200-117375000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:117374200-117375000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr9:117374200-117375000	Flanking Active TSS	Fetal Lung	lung
20	chr9:117374200-117375000	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr9:117374200-117375000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr9:117374200-117375000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr9:117374200-117375000	Flanking Active TSS	A549	lung
24	chr9:117374200-117375000	Flanking Active TSS	K562	blood
25	chr9:117374200-117375000	Flanking Active TSS	Osteobl	bone
26	chr9:117374200-117375200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr9:117374200-117375200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr9:117374200-117375200	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr9:117374200-117375200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr9:117374200-117375200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr9:117374200-117375200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr9:117374200-117375200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr9:117374200-117375400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr9:117374200-117375400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:117374200-117375400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr9:117374400-117375000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr9:117374400-117375000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:117374400-117375000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr9:117374400-117375000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr9:117374400-117375000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr9:117374400-117375000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr9:117374400-117375000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:117374400-117375000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:117374400-117375000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr9:117374400-117375200	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr9:117374400-117375200	Flanking Active TSS	Colonic Mucosa	Colon
47	chr9:117374400-117375200	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr9:117374400-117375200	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr9:117374400-117375200	Enhancers	Small Intestine	intestine
50	chr9:117374400-117375400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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