Variant report

Variant	rs552557393
Chromosome Location	chr9:115653327-115653328
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	HA-E2F1	chr9:115652859-115653583	MCF-7	breast:	n/a	n/a
2	ESR1	chr9:115653082-115653600	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
3	MAX	chr9:115652193-115653494	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:115652819-115653393	H1-hESC	embryonic stem cell:	n/a	n/a
5	NR2F2	chr9:115652921-115653546	MCF-7	breast:	n/a	n/a
6	E2F6	chr9:115652270-115653367	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr9:115652930-115653555	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr9:115653049-115653518	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
9	ESR1	chr9:115653185-115653456	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
10	NR2F2	chr9:115652730-115653534	MCF-7	breast:	n/a	n/a
11	ESR1	chr9:115653034-115653479	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
12	SIN3A	chr9:115652511-115653337	H1-hESC	embryonic stem cell:	n/a	chr9:115653166-115653177 chr9:115653164-115653177
13	ESR1	chr9:115653122-115653540	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
14	MAX	chr9:115652737-115653490	MCF-7	breast:	n/a	n/a
15	GABPA	chr9:115653107-115653408	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr9:115652742-115653435	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr9:115652664-115653484	ECC-1	luminal epithelium:	n/a	n/a
18	HDAC2	chr9:115652513-115653543	MCF-7	breast:	n/a	chr9:115653158-115653177
19	E2F6	chr9:115652343-115653595	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr9:115653045-115653403	MCF-7	breast:	n/a	n/a
21	TCF12	chr9:115652806-115653496	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr9:115652218-115653557	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115647367..115649652-chr9:115652587..115654849,2	MCF-7	breast:

Variant related genes	Relation type
SLC46A2	TF binding region
ENSG00000271631	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2757352	chr9:115648457-115664299	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv529036	chr9:115652836-115655849	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115652200-115653600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:115652200-115653600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:115652400-115653400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr9:115652400-115653400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:115652400-115653400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:115652400-115653400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
7	chr9:115652400-115653400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr9:115652400-115653400	Flanking Active TSS	Lung	lung
9	chr9:115652400-115653600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:115652400-115653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr9:115652400-115653600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:115652400-115653600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr9:115652400-115653800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr9:115652600-115653400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
16	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:115652600-115653400	Active TSS	Brain Anterior Caudate	brain
22	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
23	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr9:115652600-115653400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr9:115652600-115653400	Bivalent/Poised TSS	Thymus	Thymus
27	chr9:115652600-115653400	Flanking Active TSS	HMEC	breast
28	chr9:115652600-115653400	Active TSS	HSMM	muscle
29	chr9:115652600-115653600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr9:115652600-115653600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:115652600-115653600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr9:115652600-115653600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr9:115652600-115653600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:115652600-115653600	Active TSS	Brain Angular Gyrus	brain
35	chr9:115652600-115653600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr9:115652600-115653600	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr9:115652800-115653400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:115652800-115653400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:115652800-115653400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:115652800-115653400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:115652800-115653400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:115652800-115653400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:115652800-115653400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr9:115652800-115653400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:115652800-115653400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:115652800-115653400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:115652800-115653400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr9:115652800-115653400	Active TSS	Colon Smooth Muscle	Colon
49	chr9:115652800-115653400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr9:115652800-115653400	Active TSS	Left Ventricle	heart

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