Variant report

Variant	rs182806100
Chromosome Location	chr9:117375026-117375027
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	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	MTA3	chr9:117373827-117376338	GM12878	blood:	n/a	n/a
5	GATA3	chr9:117374385-117375621	T-47D	breast:	n/a	n/a
6	POLR2A	chr9:117372690-117375775	GM12878	blood:	n/a	n/a
7	FOXM1	chr9:117374667-117375651	GM12878	blood:	n/a	n/a
8	HCFC1	chr9:117372658-117375106	Hela-S3	cervix:	n/a	n/a
9	RUNX3	chr9:117374797-117375984	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:117372573-117376345	GM12878	blood:	n/a	n/a
11	GATA3	chr9:117374404-117375187	T-47D	breast:	n/a	n/a
12	CHD1	chr9:117374921-117376023	GM12878	blood:	n/a	n/a
13	WRNIP1	chr9:117374148-117377038	GM12878	blood:	n/a	n/a
14	EBF1	chr9:117374660-117375089	GM12878	blood:	n/a	n/a
15	STAT5A	chr9:117374655-117375282	GM12878	blood:	n/a	n/a
16	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
17	CEBPB	chr9:117374320-117375088	HepG2	liver:	n/a	chr9:117374771-117374784
18	POLR2A	chr9:117372721-117376079	GM12891	blood:	n/a	n/a
19	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
20	EP300	chr9:117374957-117375956	GM12878	blood:	n/a	chr9:117375554-117375568
21	STAT1	chr9:117374853-117375620	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:117372060-117376570	GM12878	blood:	n/a	n/a
23	ZNF263	chr9:117373966-117375344	HEK293-T-REx	kidney:	n/a	n/a
24	ELF1	chr9:117374566-117375136	GM12878	blood:	n/a	n/a
25	POU2F2	chr9:117374538-117375061	GM12878	blood:	n/a	n/a
26	USF2	chr9:117374866-117375042	GM12878	blood:	n/a	n/a
27	RUNX3	chr9:117373846-117375044	GM12878	blood:	n/a	n/a
28	FOXM1	chr9:117374885-117375837	GM12878	blood:	n/a	n/a
29	RCOR1	chr9:117374932-117375729	GM12878	blood:	n/a	n/a
30	ZNF143	chr9:117374828-117375660	GM12878	blood:	n/a	n/a
31	RCOR1	chr9:117373945-117375151	K562	blood:	n/a	n/a
32	PML	chr9:117374928-117375949	GM12878	blood:	n/a	n/a
33	POLR2A	chr9:117372912-117375060	GM19099	blood:	n/a	n/a
34	POLR2A	chr9:117373828-117376507	GM12878	blood:	n/a	n/a
35	MXI1	chr9:117373033-117376008	GM12878	blood:	n/a	n/a
36	CHD1	chr9:117372666-117375307	IMR90	lung:	n/a	n/a
37	CEBPB	chr9:117375002-117375906	GM12878	blood:	n/a	chr9:117375556-117375567 chr9:117375557-117375568 chr9:117375556-117375569
38	TBL1XR1	chr9:117374960-117376024	GM12878	blood:	n/a	n/a
39	MXI1	chr9:117372727-117375282	IMR90	lung:	n/a	n/a
40	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	chr9:117189063..117191201-chr9:117373805..117375386,2	K562	blood:
4	chr9:117374384..117377233-chr9:117400977..117403274,2	K562	blood:
5	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
6	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
7	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
8	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
9	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
10	chr9:117248554..117250072-chr9:117374914..117376570,2	MCF-7	breast:
11	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:
12	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
ENSG00000095397	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117373400-117375200	Active TSS	Brain Angular Gyrus	brain
2	chr9:117374000-117375200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:117374000-117375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:117374000-117375400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr9:117374000-117376000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr9:117374000-117376200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr9:117374200-117375200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr9:117374200-117375200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr9:117374200-117375200	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr9:117374200-117375200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr9:117374200-117375200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr9:117374200-117375200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr9:117374200-117375200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr9:117374200-117375400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr9:117374200-117375400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:117374200-117375400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr9:117374400-117375200	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr9:117374400-117375200	Flanking Active TSS	Colonic Mucosa	Colon
20	chr9:117374400-117375200	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr9:117374400-117375200	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr9:117374400-117375200	Enhancers	Small Intestine	intestine
23	chr9:117374400-117375400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr9:117374400-117375400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr9:117374400-117375400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr9:117374400-117375400	Flanking Active TSS	Hela-S3	cervix
27	chr9:117374400-117375800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr9:117374400-117376000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:117374400-117376400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:117374400-117377000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:117374600-117375200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:117374600-117375200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:117374600-117375200	Flanking Active TSS	Fetal Brain Female	brain
34	chr9:117374600-117375200	Flanking Active TSS	HepG2	liver
35	chr9:117374600-117375400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:117374600-117375800	Weak transcription	Fetal Kidney	kidney
37	chr9:117374600-117376000	Flanking Active TSS	Dnd41	blood
38	chr9:117374600-117376200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:117374600-117376200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr9:117374600-117376200	Flanking Active TSS	GM12878-XiMat	blood
41	chr9:117374600-117381200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:117374600-117387800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:117374800-117375200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr9:117374800-117375200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:117374800-117375200	Enhancers	Aorta	Aorta
46	chr9:117374800-117375200	Enhancers	Fetal Intestine Small	intestine
47	chr9:117374800-117375200	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:117374800-117375200	Enhancers	Pancreas	Pancrea
49	chr9:117374800-117375200	Enhancers	NHDF-Ad	bronchial
50	chr9:117374800-117375600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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