Variant report

Variant	rs113471745
Chromosome Location	chr14:36988139-36988140
allele	A/C
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	MAX	chr14:36988013-36988673	A549	lung:	n/a	n/a
2	GABPA	chr14:36988075-36988434	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
4	ZNF263	chr14:36987755-36989534	HEK293-T-REx	kidney:	n/a	n/a
5	CTBP2	chr14:36987100-36990550	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOXP2	chr14:36988096-36988446	SK-N-MC	brain:	n/a	n/a
7	SUZ12	chr14:36985791-36990585	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr14:36987915-36988657	H1-hESC	embryonic stem cell:	n/a	chr14:36988105-36988119 chr14:36988060-36988074 chr14:36988063-36988077 chr14:36988092-36988106

Variant related genes	Relation type
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	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
10	nsv564346	chr14:36988010-36989849	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 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	chr14:36986400-36988200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr14:36986400-36988200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:36986400-36988200	Bivalent Enhancer	Esophagus	oesophagus
6	chr14:36986400-36988400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr14:36986400-36988600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr14:36986400-36989000	Bivalent Enhancer	Liver	Liver
9	chr14:36986400-36989200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:36986400-36989800	Enhancers	Gastric	stomach
11	chr14:36986400-36989800	Enhancers	Pancreas	Pancrea
12	chr14:36986600-36988200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:36986600-36988200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:36986600-36989400	Bivalent Enhancer	Spleen	Spleen
15	chr14:36987000-36988200	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr14:36987000-36988600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr14:36987400-36988200	Flanking Bivalent TSS/Enh	Lung	lung
18	chr14:36987400-36989400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr14:36987600-36988200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:36987600-36988400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
21	chr14:36987600-36988600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr14:36987800-36988200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr14:36987800-36988200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:36987800-36988200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:36987800-36988200	Bivalent Enhancer	Colonic Mucosa	Colon
26	chr14:36987800-36988200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr14:36987800-36988400	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr14:36987800-36988600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:36987800-36989800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:36988000-36988200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:36988000-36988200	Bivalent Enhancer	Fetal Brain Female	brain
32	chr14:36988000-36988200	Bivalent/Poised TSS	NHEK	skin
33	chr14:36988000-36988400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr14:36988000-36988400	Bivalent Enhancer	Ovary	ovary
35	chr14:36988000-36988400	Bivalent Enhancer	HMEC	breast
36	chr14:36988000-36988600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:36988000-36988600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:36988000-36988600	Bivalent Enhancer	Fetal Brain Male	brain
39	chr14:36988000-36988600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
40	chr14:36988000-36988600	Bivalent/Poised TSS	A549	lung
41	chr14:36988000-36988800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:36988000-36988800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr14:36988000-36988800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
44	chr14:36988000-36988800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr14:36988000-36989000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr14:36988000-36989200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr14:36988000-36989400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:36988000-36989400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr14:36988000-36989600	Active TSS	Right Atrium	heart
50	chr14:36988000-36990400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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