Variant report

Variant	rs146299631
Chromosome Location	chr9:116917100-116917101
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	TCF7L2	chr9:116915999-116917215	HCT-116	colon:	n/a	chr9:116916342-116916356
2	MAX	chr9:116915821-116917349	A549	lung:	n/a	n/a
3	MAZ	chr9:116915766-116920871	IMR90	lung:	n/a	chr9:116917994-116918004 chr9:116918626-116918636 chr9:116920321-116920330 chr9:116919415-116919424 chr9:116917529-116917539
4	CTCF	chr9:116916973-116917113	GM12891	blood:	n/a	n/a
5	CTCF	chr9:116917040-116917190	GM12870	blood:	n/a	n/a
6	POLR2A	chr9:116915999-116917156	HepG2	liver:	n/a	n/a
7	MAX	chr9:116915851-116918035	HepG2	liver:	n/a	chr9:116917994-116918004 chr9:116917529-116917539
8	POLR2A	chr9:116915906-116917602	HepG2	liver:	n/a	n/a
9	CTCF	chr9:116917038-116917172	GM19239	blood:	n/a	n/a
10	CTCF	chr9:116917020-116917170	GM12873	blood:	n/a	n/a
11	CTCF	chr9:116917080-116917230	NHDF-neo	bronchial:	n/a	n/a
12	RAD21	chr9:116916756-116918084	SK-N-SH	brain:	n/a	chr9:116917723-116917742 chr9:116917708-116917718 chr9:116917718-116917728 chr9:116917728-116917740 chr9:116917858-116917870 chr9:116917718-116917730 chr9:116917726-116917739 chr9:116917703-116917722 chr9:116917716-116917729 chr9:116917706-116917719 chr9:116917713-116917732 chr9:116917708-116917720
13	CTCF	chr9:116916576-116918108	SK-N-SH	brain:	n/a	chr9:116916829-116916838 chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
14	MBD4	chr9:116916598-116917171	HepG2	liver:	n/a	n/a
15	CTCF	chr9:116916987-116917108	GM12892	blood:	n/a	n/a
16	CTCF	chr9:116917020-116917170	HBMEC	blood vessel:	n/a	n/a
17	TCF12	chr9:116916630-116917126	HepG2	liver:	n/a	n/a
18	MAX	chr9:116915990-116917263	A549	lung:	n/a	n/a
19	BACH1	chr9:116916262-116917825	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr9:116915978-116917193	HepG2	liver:	n/a	n/a
21	SMC3	chr9:116915895-116918559	SK-N-SH	brain:	n/a	chr9:116917718-116917728 chr9:116917714-116917728 chr9:116917708-116917718 chr9:116916166-116916180 chr9:116917724-116917738 chr9:116916389-116916399 chr9:116917704-116917718 chr9:116916330-116916340
22	MAX	chr9:116915939-116917283	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116914824..116917398-chr9:116971543..116973662,2	MCF-7	breast:

Variant related genes	Relation type
COL27A1	TF binding region
ENSG00000207726	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466526	chr9:116901926-116924781	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615226	chr9:116901926-116924781	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv615227	chr9:116904534-116924781	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv466530	chr9:116916931-116935660	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv615230	chr9:116916931-116935660	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv466531	chr9:116916931-116940418	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv615231	chr9:116916931-116940418	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116915800-116917400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
2	chr9:116915800-116917600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr9:116916000-116917200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:116916000-116917200	Enhancers	Lung	lung
5	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
7	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
8	chr9:116916000-116917600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
9	chr9:116916000-116917600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
10	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
14	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
16	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
17	chr9:116916200-116917200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
18	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	HMEC	breast
21	chr9:116916200-116917400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
23	chr9:116916200-116917400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:116916200-116917800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
29	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	NHLF	lung
30	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:116916400-116917400	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
33	chr9:116916400-116917400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr9:116916400-116917400	Flanking Active TSS	Pancreas	Pancrea
36	chr9:116916400-116917600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
37	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
44	chr9:116916600-116917200	Flanking Active TSS	Right Atrium	heart
45	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
46	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr9:116916600-116917400	Flanking Active TSS	Gastric	stomach

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