Variant report

Variant	rs553532935
Chromosome Location	chr9:116925924-116925925
allele	A/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	JUND	chr9:116925858-116925976	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYBL2	chr9:116925762-116926183	HepG2	liver:	n/a	n/a
3	MAX	chr9:116925775-116926035	HepG2	liver:	n/a	n/a
4	MAZ	chr9:116925836-116926113	HepG2	liver:	n/a	n/a
5	MXI1	chr9:116925751-116926104	HepG2	liver:	n/a	n/a
6	MAX	chr9:116925700-116926114	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr9:116925733-116926029	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr9:116925821-116926486	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr9:116925776-116926107	HepG2	liver:	n/a	n/a
10	RCOR1	chr9:116925886-116925964	HepG2	liver:	n/a	n/a
11	REST	chr9:116925770-116926171	H1-hESC	embryonic stem cell:	n/a	chr9:116925796-116925809 chr9:116926109-116926123 chr9:116925784-116925797 chr9:116925784-116925804 chr9:116926103-116926123 chr9:116926149-116926162 chr9:116925787-116925800
12	RAD21	chr9:116925800-116925962	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr9:116925764-116925957	HepG2	liver:	n/a	n/a
14	MAX	chr9:116925619-116926177	A549	lung:	n/a	n/a
15	E2F6	chr9:116925614-116926216	H1-hESC	embryonic stem cell:	n/a	chr9:116926139-116926148
16	HNF4A	chr9:116925799-116926192	HepG2	liver:	n/a	chr9:116925964-116925986
17	MXI1	chr9:116925553-116926681	IMR90	lung:	n/a	n/a
18	FOSL2	chr9:116925741-116926263	HepG2	liver:	n/a	chr9:116926138-116926147
19	MYC	chr9:116925908-116925990	MCF-7	breast:	n/a	n/a
20	TEAD4	chr9:116925753-116926134	H1-hESC	embryonic stem cell:	n/a	n/a
21	TCF12	chr9:116925650-116926176	A549	lung:	n/a	n/a
22	REST	chr9:116925859-116926304	ECC-1	luminal epithelium:	n/a	chr9:116926109-116926123 chr9:116926103-116926123 chr9:116926149-116926162
23	EP300	chr9:116925758-116926134	HepG2	liver:	n/a	n/a
24	REST	chr9:116925906-116926279	SK-N-SH	brain:	n/a	chr9:116926109-116926123 chr9:116926103-116926123 chr9:116926149-116926162
25	SP1	chr9:116925696-116926033	H1-hESC	embryonic stem cell:	n/a	chr9:116925999-116926013 chr9:116925902-116925916 chr9:116925901-116925912
26	MXI1	chr9:116925748-116926074	H1-hESC	embryonic stem cell:	n/a	n/a
27	TEAD4	chr9:116925690-116926134	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr9:116925865-116925939	HepG2	liver:	n/a	n/a
29	EP300	chr9:116925715-116926118	HepG2	liver:	n/a	n/a
30	MYC	chr9:116925800-116925997	HepG2	liver:	n/a	n/a
31	MAZ	chr9:116925543-116926838	IMR90	lung:	n/a	n/a
32	MYC	chr9:116925735-116926003	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr9:116925695-116926170	HepG2	liver:	n/a	n/a
34	REST	chr9:116925823-116926252	A549	lung:	n/a	chr9:116926109-116926123 chr9:116926103-116926123 chr9:116926149-116926162
35	SP1	chr9:116925735-116926146	H1-hESC	embryonic stem cell:	n/a	chr9:116925999-116926013 chr9:116925902-116925916 chr9:116926132-116926141 chr9:116925901-116925912 chr9:116926133-116926142
36	MAX	chr9:116925747-116926135	A549	lung:	n/a	n/a
37	MAX	chr9:116925739-116926008	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr9:116925898-116926294	ECC-1	luminal epithelium:	n/a	chr9:116926109-116926123 chr9:116926103-116926123 chr9:116926149-116926162
39	RAD21	chr9:116925691-116926102	H1-hESC	embryonic stem cell:	n/a	chr9:116925792-116925802
40	GABPA	chr9:116925777-116926108	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr9:116925792-116926044	HepG2	liver:	n/a	n/a
42	MAX	chr9:116925691-116926148	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr9:116925673-116926152	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF12	chr9:116925648-116926288	ECC-1	luminal epithelium:	n/a	chr9:116926206-116926213 chr9:116926204-116926211 chr9:116926202-116926212
45	CHD2	chr9:116925741-116926067	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3A	chr9:116925688-116926104	H1-hESC	embryonic stem cell:	n/a	chr9:116925784-116925797
47	MAX	chr9:116925651-116926215	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116870237..116871907-chr9:116924776..116927376,2	MCF-7	breast:

Variant related genes	Relation type
COL27A1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	esv3357134	chr9:116925431-116930729	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116919400-116930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
6	chr9:116919800-116927000	Enhancers	Liver	Liver
7	chr9:116919800-116927200	Genic enhancers	Fetal Intestine Small	intestine
8	chr9:116921800-116931600	Weak transcription	Aorta	Aorta
9	chr9:116923000-116926800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr9:116923200-116927000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:116923600-116926400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:116923600-116926800	Enhancers	Psoas Muscle	Psoas
13	chr9:116924000-116926400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:116924000-116926400	Enhancers	Left Ventricle	heart
15	chr9:116924000-116926400	Enhancers	Stomach Mucosa	stomach
16	chr9:116924000-116926800	Genic enhancers	Fetal Stomach	stomach
17	chr9:116924000-116927000	Enhancers	Pancreas	Pancrea
18	chr9:116924200-116926800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:116924200-116927000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:116924200-116927000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:116924400-116926000	Enhancers	Esophagus	oesophagus
22	chr9:116924400-116926400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:116924400-116926400	Enhancers	Placenta	Placenta
24	chr9:116924400-116926800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:116924800-116926600	Enhancers	NHDF-Ad	bronchial
26	chr9:116924800-116926800	Enhancers	Fetal Lung	lung
27	chr9:116925000-116926000	Enhancers	Colonic Mucosa	Colon
28	chr9:116925000-116926600	Enhancers	HepG2	liver
29	chr9:116925000-116927000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:116925400-116926200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:116925400-116926400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:116925400-116926600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:116925400-116926800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:116925600-116926000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:116925600-116926000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:116925600-116926000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:116925600-116926000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:116925600-116926000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr9:116925600-116926000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:116925600-116926000	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr9:116925600-116926000	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr9:116925600-116926000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr9:116925600-116926000	Enhancers	Fetal Kidney	kidney
44	chr9:116925600-116926000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr9:116925600-116926000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
46	chr9:116925600-116926000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr9:116925600-116926000	Enhancers	HUVEC	blood vessel
48	chr9:116925600-116926000	Flanking Active TSS	NH-A	brain
49	chr9:116925600-116926000	Flanking Active TSS	NHLF	lung
50	chr9:116925600-116926200	Enhancers	HUES48 Cell Line	embryonic stem cell

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