Variant report

Variant	rs144917707
Chromosome Location	chr9:115653108-115653109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

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	POLR2A	chr9:115652968-115653235	H1-neurons	neurons:	n/a	n/a
4	MAX	chr9:115652193-115653494	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:115653100-115653250	GM12866	blood:	n/a	n/a
6	USF1	chr9:115652685-115653172	H1-hESC	embryonic stem cell:	n/a	chr9:115652939-115652950 chr9:115652956-115652967
7	BACH1	chr9:115652819-115653393	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr9:115653048-115653125	H1-hESC	embryonic stem cell:	n/a	n/a
9	NR2F2	chr9:115652921-115653546	MCF-7	breast:	n/a	n/a
10	CTCF	chr9:115653060-115653210	HMEC	breast:	n/a	n/a
11	E2F6	chr9:115652270-115653367	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFIC	chr9:115652930-115653555	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr9:115653049-115653518	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
14	CTCF	chr9:115653020-115653170	AG09319	gingival:	n/a	n/a
15	CTCF	chr9:115653033-115653222	MCF-7	breast:	n/a	n/a
16	NR2F2	chr9:115652730-115653534	MCF-7	breast:	n/a	n/a
17	ESR1	chr9:115653034-115653479	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
18	SIN3A	chr9:115652511-115653337	H1-hESC	embryonic stem cell:	n/a	chr9:115653166-115653177 chr9:115653164-115653177
19	CTCF	chr9:115653060-115653210	HEK293	kidney:	n/a	n/a
20	ZNF263	chr9:115652834-115653281	HEK293-T-REx	kidney:	n/a	n/a
21	USF2	chr9:115652686-115653147	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr9:115652980-115653130	MCF-7	breast:	n/a	n/a
23	MAX	chr9:115652737-115653490	MCF-7	breast:	n/a	n/a
24	GABPA	chr9:115653107-115653408	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr9:115652742-115653435	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr9:115652664-115653484	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr9:115652893-115653304	ECC-1	luminal epithelium:	n/a	n/a
28	HDAC2	chr9:115652513-115653543	MCF-7	breast:	n/a	chr9:115653158-115653177
29	POLR2A	chr9:115652957-115653281	MCF-7	breast:	n/a	n/a
30	CTCF	chr9:115653100-115653250	HCM	heart:	n/a	n/a
31	E2F6	chr9:115652343-115653595	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr9:115653045-115653403	MCF-7	breast:	n/a	n/a
33	CTCF	chr9:115653053-115653208	MCF-7	breast:	n/a	n/a
34	TCF12	chr9:115652806-115653496	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr9:115653080-115653169	Fibrobl	skin:	n/a	n/a
36	CTCF	chr9:115653078-115653178	MCF-7	breast:	n/a	n/a
37	MAX	chr9:115652218-115653557	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

No data

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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115652200-115653200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:115652200-115653600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:115652200-115653600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:115652400-115653200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr9:115652400-115653200	Flanking Active TSS	Osteobl	bone
6	chr9:115652400-115653400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr9:115652400-115653400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:115652400-115653400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:115652400-115653400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
10	chr9:115652400-115653400	Bivalent Enhancer	Fetal Brain Male	brain
11	chr9:115652400-115653400	Flanking Active TSS	Lung	lung
12	chr9:115652400-115653600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:115652400-115653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr9:115652400-115653600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:115652400-115653600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr9:115652400-115653800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:115652600-115653200	Flanking Active TSS	Gastric	stomach
18	chr9:115652600-115653200	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr9:115652600-115653200	Bivalent/Poised TSS	NHLF	lung
20	chr9:115652600-115653400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
22	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:115652600-115653400	Active TSS	Brain Anterior Caudate	brain
28	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr9:115652600-115653400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr9:115652600-115653400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr9:115652600-115653400	Bivalent/Poised TSS	Thymus	Thymus
33	chr9:115652600-115653400	Flanking Active TSS	HMEC	breast
34	chr9:115652600-115653400	Active TSS	HSMM	muscle
35	chr9:115652600-115653600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr9:115652600-115653600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:115652600-115653600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr9:115652600-115653600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr9:115652600-115653600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:115652600-115653600	Active TSS	Brain Angular Gyrus	brain
41	chr9:115652600-115653600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr9:115652600-115653600	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr9:115652800-115653200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr9:115652800-115653200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr9:115652800-115653200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr9:115652800-115653200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr9:115652800-115653200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
48	chr9:115652800-115653200	Flanking Active TSS	Ovary	ovary
49	chr9:115652800-115653200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
50	chr9:115652800-115653200	Active TSS	Right Atrium	heart

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