Variant report

Variant	rs183408353
Chromosome Location	chr3:179370263-179370264
allele	A/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	POLR2A	chr3:179370232-179372454	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr3:179370260-179370410	GM12867	blood:	n/a	n/a
3	JUND	chr3:179370196-179370685	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr3:179370220-179370370	GM12864	blood:	n/a	n/a
5	FOXM1	chr3:179370057-179370931	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr3:179370260-179370410	AG04450	lung:	n/a	n/a
7	POLR2A	chr3:179370243-179370428	ProgFib	skin:	n/a	n/a
8	POLR2A	chr3:179370247-179371543	MCF-7	breast:	n/a	n/a
9	MAX	chr3:179370094-179372626	HCT-116	colon:	n/a	chr3:179372121-179372130
10	RUNX3	chr3:179370072-179371843	GM12878	blood:	n/a	n/a
11	CEBPB	chr3:179370243-179370639	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr3:179370248-179371478	GM12878	blood:	n/a	n/a
13	MYBL2	chr3:179370257-179370858	HepG2	liver:	n/a	n/a
14	E2F4	chr3:179370238-179370598	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr3:179370198-179370539	PANC-1	pancreas:	n/a	n/a
16	MAX	chr3:179370205-179370951	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr3:179370220-179370370	GM12874	blood:	n/a	n/a
18	MAX	chr3:179370134-179371743	A549	lung:	n/a	n/a
19	SIN3AK20	chr3:179370118-179371808	MCF-7	breast:	n/a	n/a
20	POLR2A	chr3:179370251-179372409	IMR90	lung:	n/a	n/a
21	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
22	TEAD4	chr3:179370139-179371544	ECC-1	luminal epithelium:	n/a	n/a
23	RUNX3	chr3:179370164-179370875	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:179370170-179371655	GM12878	blood:	n/a	n/a
25	CTCF	chr3:179370240-179370390	GM12864	blood:	n/a	n/a
26	MAX	chr3:179370140-179371704	SK-N-SH	brain:	n/a	n/a
27	RCOR1	chr3:179370254-179370632	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr3:179370200-179370350	GM12868	blood:	n/a	n/a
29	CTCF	chr3:179370200-179370350	MCF-7	breast:	n/a	n/a
30	POLR2A	chr3:179370194-179371625	GM12892	blood:	n/a	n/a
31	MXI1	chr3:179369874-179371862	IMR90	lung:	n/a	n/a
32	POLR2A	chr3:179369989-179370867	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr3:179370112-179371775	GM19099	blood:	n/a	n/a
34	POLR2A	chr3:179370209-179371945	H1-hESC	embryonic stem cell:	n/a	n/a
35	EGR1	chr3:179370140-179370967	ECC-1	luminal epithelium:	n/a	chr3:179370276-179370290 chr3:179370274-179370284 chr3:179370687-179370701 chr3:179370257-179370271 chr3:179370729-179370742 chr3:179370730-179370740
36	MAX	chr3:179370226-179371745	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr3:179370197-179370845	IMR90	lung:	n/a	n/a
38	EGR1	chr3:179370148-179370361	GM12878	blood:	n/a	chr3:179370276-179370290 chr3:179370274-179370284 chr3:179370257-179370271
39	POLR2A	chr3:179370047-179372678	HUVEC	blood vessel:	n/a	n/a
40	TAF1	chr3:179370214-179370894	SK-N-SH	brain:	n/a	n/a
41	FOXM1	chr3:179370081-179370901	ECC-1	luminal epithelium:	n/a	n/a
42	MXI1	chr3:179369619-179373450	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr3:179370204-179370845	U87	brain:	n/a	n/a
44	HEY1	chr3:179370239-179371503	HepG2	liver:	n/a	n/a
45	TCF7L2	chr3:179370210-179372414	HCT-116	colon:	n/a	chr3:179372122-179372131
46	MAZ	chr3:179370233-179371664	GM12878	blood:	n/a	n/a
47	CREB1	chr3:179370194-179371707	HepG2	liver:	n/a	chr3:179370465-179370478
48	UBTF	chr3:179370056-179371772	K562	blood:	n/a	n/a
49	ELF1	chr3:179370246-179370869	GM12878	blood:	n/a	n/a
50	POLR2A	chr3:179370254-179370751	GM12878	blood:	n/a	n/a

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
ENSG00000243977	TF binding region
USP13	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179369600-179370400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:179369600-179372400	Active TSS	NHDF-Ad	bronchial
3	chr3:179369600-179372600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr3:179369800-179370400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:179369800-179370400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr3:179369800-179370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:179369800-179370400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:179369800-179370400	Flanking Active TSS	Dnd41	blood
9	chr3:179369800-179370400	Flanking Active TSS	NHEK	skin
10	chr3:179369800-179370600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr3:179369800-179370600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:179369800-179371800	Active TSS	Brain Cingulate Gyrus	brain
13	chr3:179369800-179372000	Active TSS	Stomach Smooth Muscle	stomach
14	chr3:179369800-179372200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr3:179369800-179372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:179369800-179372200	Active TSS	Fetal Brain Female	brain
17	chr3:179369800-179372400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr3:179369800-179372400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:179369800-179372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:179369800-179372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:179369800-179372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:179369800-179372600	Active TSS	HSMMtube	muscle
23	chr3:179370000-179370400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr3:179370000-179370400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr3:179370000-179370400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr3:179370000-179370400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr3:179370000-179370400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr3:179370000-179370400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr3:179370000-179370400	Flanking Active TSS	Fetal Heart	heart
30	chr3:179370000-179370400	Flanking Active TSS	Hela-S3	cervix
31	chr3:179370000-179370400	Flanking Active TSS	HepG2	liver
32	chr3:179370000-179370600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr3:179370000-179370600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:179370000-179370600	Flanking Active TSS	Liver	Liver
35	chr3:179370000-179370600	Enhancers	Stomach Mucosa	stomach
36	chr3:179370000-179370600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr3:179370000-179370800	Active TSS	Right Atrium	heart
38	chr3:179370000-179371000	Active TSS	Primary B cells from cord blood	blood
39	chr3:179370000-179371000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:179370000-179371000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:179370000-179371400	Active TSS	Duodenum Mucosa	Duodenum
42	chr3:179370000-179371400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:179370000-179371600	Active TSS	Adipose Nuclei	Adipose
44	chr3:179370000-179371600	Active TSS	Fetal Muscle Trunk	muscle
45	chr3:179370000-179371800	Active TSS	Brain Substantia Nigra	brain
46	chr3:179370000-179371800	Active TSS	Gastric	stomach
47	chr3:179370000-179372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:179370000-179372000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr3:179370000-179372000	Active TSS	Primary T cells from cord blood	blood
50	chr3:179370000-179372000	Active TSS	Brain Angular Gyrus	brain

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