Variant report

Variant	rs143269839
Chromosome Location	chr14:36986492-36986493
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	TBP	chr14:36986482-36986672	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
3	BACH1	chr14:36986448-36986648	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr14:36986388-36986807	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr14:36986364-36986843	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr14:36986327-36986521	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr14:36985791-36990585	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr14:36985797-36986843	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SFTA3	TF binding region
NKX2-1-AS1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS 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	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3355368	chr14:36985726-36988574	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv819045	chr14:36985729-36987493	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv15094	chr14:36986331-36990958	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36981400-36991200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:36985400-36988200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:36986200-36987000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
4	chr14:36986400-36986600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr14:36986400-36986600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:36986400-36986600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:36986400-36986600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:36986400-36986600	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr14:36986400-36986600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr14:36986400-36986600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
11	chr14:36986400-36986600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr14:36986400-36986600	Bivalent Enhancer	HMEC	breast
13	chr14:36986400-36986800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:36986400-36986800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:36986400-36986800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
16	chr14:36986400-36986800	Bivalent Enhancer	Left Ventricle	heart
17	chr14:36986400-36986800	Transcr. at gene 5' and 3'	Lung	lung
18	chr14:36986400-36986800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
19	chr14:36986400-36987000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
20	chr14:36986400-36987000	Bivalent/Poised TSS	Right Atrium	heart
21	chr14:36986400-36987200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:36986400-36987200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:36986400-36987600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:36986400-36988200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr14:36986400-36988200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:36986400-36988200	Bivalent Enhancer	Esophagus	oesophagus
27	chr14:36986400-36988400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr14:36986400-36988600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr14:36986400-36989000	Bivalent Enhancer	Liver	Liver
30	chr14:36986400-36989200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:36986400-36989800	Enhancers	Gastric	stomach
32	chr14:36986400-36989800	Enhancers	Pancreas	Pancrea

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