Variant report

Variant	rs369061502
Chromosome Location	chr5:14180809-14180810
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:14180471-14181116	MCF-7	breast:	n/a	n/a
2	GATA3	chr5:14180601-14180958	MCF-7	breast:	n/a	n/a
3	GATA3	chr5:14180556-14180939	T-47D	breast:	n/a	n/a
4	GATA3	chr5:14180304-14181181	MCF-7	breast:	n/a	n/a
5	MAX	chr5:14180540-14180965	MCF-7	breast:	n/a	n/a
6	NR2F2	chr5:14180568-14181005	MCF-7	breast:	n/a	n/a
7	HDAC2	chr5:14180570-14180953	MCF-7	breast:	n/a	n/a
8	TCF7L2	chr5:14180782-14180894	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:14180527-14180975	PANC-1	pancreas:	n/a	n/a
10	ZNF217	chr5:14180668-14180813	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr5:14180540-14181061	MCF-7	breast:	n/a	n/a
12	GATA3	chr5:14180604-14180900	T-47D	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14179287..14181889-chr5:14185448..14187309,2	MCF-7	breast:
2	chr5:14175254..14177607-chr5:14178876..14181098,2	MCF-7	breast:
3	chr5:14142296..14145562-chr5:14179804..14183456,3	MCF-7	breast:
4	chr5:14156677..14158288-chr5:14179472..14181137,2	MCF-7	breast:
5	chr5:14147688..14150262-chr5:14179544..14182482,2	MCF-7	breast:
6	chr5:14179684..14181395-chr5:14181871..14184690,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
2	chr5:14174400-14183400	Weak transcription	Fetal Lung	lung
3	chr5:14174400-14184400	Weak transcription	Colonic Mucosa	Colon
4	chr5:14174600-14183000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:14174800-14181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:14174800-14181400	Weak transcription	Thymus	Thymus
7	chr5:14174800-14184000	Weak transcription	Fetal Kidney	kidney
8	chr5:14175000-14181400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:14175000-14184000	Weak transcription	Stomach Mucosa	stomach
10	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
12	chr5:14175600-14181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:14175800-14181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:14176600-14182800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:14177400-14181800	Enhancers	NHEK	skin
17	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:14177800-14183000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:14178000-14184400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:14178400-14182000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:14178600-14183000	Weak transcription	Gastric	stomach
22	chr5:14178600-14183800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:14178600-14187000	Enhancers	Left Ventricle	heart
24	chr5:14178800-14182400	Weak transcription	Brain Anterior Caudate	brain
25	chr5:14178800-14183000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:14178800-14183400	Enhancers	NHDF-Ad	bronchial
27	chr5:14178800-14184000	Enhancers	NH-A	brain
28	chr5:14179000-14181000	Enhancers	Placenta	Placenta
29	chr5:14179000-14181000	Weak transcription	HUVEC	blood vessel
30	chr5:14179000-14181600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:14179000-14183000	Weak transcription	Spleen	Spleen
32	chr5:14179000-14184800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:14179200-14181400	Weak transcription	Brain Angular Gyrus	brain
34	chr5:14179200-14181400	Weak transcription	Brain Germinal Matrix	brain
35	chr5:14179200-14181400	Weak transcription	Fetal Heart	heart
36	chr5:14179200-14181400	Weak transcription	Right Ventricle	heart
37	chr5:14179200-14181400	Weak transcription	GM12878-XiMat	blood
38	chr5:14179200-14181600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:14179200-14181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:14179200-14181600	Weak transcription	Psoas Muscle	Psoas
41	chr5:14179200-14181800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:14179200-14182200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:14179200-14183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:14179200-14183000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:14179200-14183000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:14179200-14183400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:14179200-14183800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:14179200-14185400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:14179200-14189800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:14179400-14181200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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