Variant report

Variant	rs13085212
Chromosome Location	chr3:179370098-179370099
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	FOXM1	chr3:179370057-179370931	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr3:179370094-179372626	HCT-116	colon:	n/a	chr3:179372121-179372130
3	RUNX3	chr3:179370072-179371843	GM12878	blood:	n/a	n/a
4	SPI1	chr3:179369928-179370183	GM12878	blood:	n/a	n/a
5	EGR1	chr3:179370057-179370925	HCT-116	colon:	n/a	chr3:179370276-179370290 chr3:179370274-179370284 chr3:179370687-179370701 chr3:179370257-179370271 chr3:179370729-179370742 chr3:179370730-179370740
6	MXI1	chr3:179369874-179371862	IMR90	lung:	n/a	n/a
7	POLR2A	chr3:179369989-179370867	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr3:179370047-179372678	HUVEC	blood vessel:	n/a	n/a
9	FOXM1	chr3:179370081-179370901	ECC-1	luminal epithelium:	n/a	n/a
10	MXI1	chr3:179369619-179373450	SK-N-SH	brain:	n/a	n/a
11	UBTF	chr3:179370056-179371772	K562	blood:	n/a	n/a
12	CHD1	chr3:179369863-179372616	IMR90	lung:	n/a	n/a
13	REST	chr3:179370061-179371782	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr3:179370006-179371965	Raji	blood:	n/a	n/a
15	MAZ	chr3:179369928-179372343	IMR90	lung:	n/a	chr3:179372121-179372130
16	CTCF	chr3:179369980-179370130	GM12872	blood:	n/a	n/a
17	WRNIP1	chr3:179369871-179370102	GM12878	blood:	n/a	n/a
18	CTCF	chr3:179370020-179370170	GM12873	blood:	n/a	n/a
19	POLR2A	chr3:179369900-179372351	GM12891	blood:	n/a	n/a
20	EGR1	chr3:179370084-179370416	K562	blood:	n/a	chr3:179370276-179370290 chr3:179370274-179370284 chr3:179370257-179370271

No.	Distal block	Cell Line	Cell type
1	chr3:179062475..179065895-chr3:179368714..179370965,3	MCF-7	breast:
2	chr3:179369074..179371005-chr9:91932390..91934959,2	MCF-7	breast:
3	chr3:179368583..179370477-chr3:179391121..179393841,2	MCF-7	breast:

Variant related genes	Relation type
USP13	TF binding region
ENSG00000243977	TF binding region
ENSG00000187742	Chromatin interaction
ENSG00000171109	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3400340	chr3:179369683-179372231	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3450815	chr3:179370008-179372006	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179367800-179370200	Weak transcription	Placenta	Placenta
2	chr3:179369600-179370400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:179369600-179372400	Active TSS	NHDF-Ad	bronchial
4	chr3:179369600-179372600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:179369800-179370200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:179369800-179370200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr3:179369800-179370200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr3:179369800-179370200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:179369800-179370200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:179369800-179370200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:179369800-179370200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:179369800-179370200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr3:179369800-179370200	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr3:179369800-179370200	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr3:179369800-179370200	Bivalent Enhancer	Fetal Thymus	thymus
16	chr3:179369800-179370200	Flanking Active TSS	A549	lung
17	chr3:179369800-179370200	Flanking Active TSS	GM12878-XiMat	blood
18	chr3:179369800-179370200	Flanking Active TSS	NH-A	brain
19	chr3:179369800-179370200	Flanking Active TSS	NHLF	lung
20	chr3:179369800-179370200	Flanking Active TSS	Osteobl	bone
21	chr3:179369800-179370400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:179369800-179370400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr3:179369800-179370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:179369800-179370400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:179369800-179370400	Flanking Active TSS	Dnd41	blood
26	chr3:179369800-179370400	Flanking Active TSS	NHEK	skin
27	chr3:179369800-179370600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr3:179369800-179370600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:179369800-179371800	Active TSS	Brain Cingulate Gyrus	brain
30	chr3:179369800-179372000	Active TSS	Stomach Smooth Muscle	stomach
31	chr3:179369800-179372200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr3:179369800-179372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:179369800-179372200	Active TSS	Fetal Brain Female	brain
34	chr3:179369800-179372400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr3:179369800-179372400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr3:179369800-179372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:179369800-179372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:179369800-179372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:179369800-179372600	Active TSS	HSMMtube	muscle
40	chr3:179370000-179370200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr3:179370000-179370200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr3:179370000-179370200	Enhancers	Primary B cells from peripheral blood	blood
43	chr3:179370000-179370200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr3:179370000-179370200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr3:179370000-179370200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:179370000-179370200	Enhancers	Colon Smooth Muscle	Colon
47	chr3:179370000-179370200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr3:179370000-179370200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr3:179370000-179370200	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr3:179370000-179370200	Active TSS	Fetal Muscle Leg	muscle

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