Variant report

Variant	rs376956309
Chromosome Location	chr9:115653436-115653437
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	NR2F2	chr9:115652921-115653546	MCF-7	breast:	n/a	n/a
5	NFIC	chr9:115652930-115653555	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr9:115653049-115653518	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
7	ESR1	chr9:115653185-115653456	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
8	NR2F2	chr9:115652730-115653534	MCF-7	breast:	n/a	n/a
9	ESR1	chr9:115653034-115653479	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
10	ESR1	chr9:115653122-115653540	ECC-1	luminal epithelium:	n/a	chr9:115653339-115653356
11	MAX	chr9:115652737-115653490	MCF-7	breast:	n/a	n/a
12	MAX	chr9:115652664-115653484	ECC-1	luminal epithelium:	n/a	n/a
13	HDAC2	chr9:115652513-115653543	MCF-7	breast:	n/a	chr9:115653158-115653177
14	E2F6	chr9:115652343-115653595	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF2	chr9:115653428-115653455	H1-hESC	embryonic stem cell:	n/a	n/a
16	TCF12	chr9:115652806-115653496	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr9:115652218-115653557	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115653409..115654935-chr9:115663870..115665546,2	MCF-7	breast:
2	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:61 , 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	chr9:115652400-115653600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:115652400-115653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr9:115652400-115653600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:115652400-115653600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr9:115652400-115653800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr9:115652600-115653600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr9:115652600-115653600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:115652600-115653600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:115652600-115653600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr9:115652600-115653600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:115652600-115653600	Active TSS	Brain Angular Gyrus	brain
14	chr9:115652600-115653600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr9:115652600-115653600	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr9:115652800-115653600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:115652800-115653600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:115652800-115653600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr9:115652800-115653600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr9:115652800-115653600	Active TSS	A549	lung
21	chr9:115652800-115653600	Bivalent/Poised TSS	HepG2	liver
22	chr9:115653000-115653600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr9:115653000-115653600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:115653000-115653600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:115653000-115653600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:115653000-115653600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr9:115653000-115653600	Bivalent Enhancer	Placenta	Placenta
28	chr9:115653000-115653600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr9:115653000-115653600	Bivalent/Poised TSS	NHEK	skin
30	chr9:115653200-115653600	Active TSS	Brain Cingulate Gyrus	brain
31	chr9:115653200-115653600	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr9:115653200-115653600	Flanking Active TSS	Right Atrium	heart
33	chr9:115653200-115653600	Active TSS	Osteobl	bone
34	chr9:115653200-115654000	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr9:115653200-115654400	Weak transcription	Gastric	stomach
36	chr9:115653200-115659000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr9:115653400-115653600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr9:115653400-115653600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:115653400-115653600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:115653400-115653600	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
41	chr9:115653400-115653600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:115653400-115653600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:115653400-115653600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr9:115653400-115653600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:115653400-115653600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:115653400-115653600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:115653400-115653600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:115653400-115653600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:115653400-115653600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr9:115653400-115653600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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