Variant report

Variant	rs555458391
Chromosome Location	chr14:36989203-36989204
allele	A/G
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	SP1	chr14:36988597-36989436	H1-hESC	embryonic stem cell:	n/a	chr14:36988986-36988996 chr14:36989221-36989232 chr14:36988987-36988996
2	TCF12	chr14:36988988-36989302	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr14:36988911-36989314	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr14:36989086-36989413	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
6	SIN3A	chr14:36988536-36989516	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF263	chr14:36987755-36989534	HEK293-T-REx	kidney:	n/a	n/a
8	CTCF	chr14:36989184-36990314	A549	lung:	n/a	chr14:36989542-36989555 chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
9	CTBP2	chr14:36987100-36990550	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr14:36988865-36989401	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB7A	chr14:36989119-36989589	ECC-1	luminal epithelium:	n/a	chr14:36989518-36989527
12	EGR1	chr14:36988852-36989430	H1-hESC	embryonic stem cell:	n/a	n/a
13	SUZ12	chr14:36985791-36990585	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr14:36988662-36989430	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr14:36988772-36989425	H1-hESC	embryonic stem cell:	n/a	n/a
16	TCF12	chr14:36988862-36989215	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:36989134-36989522	H1-neurons	neurons:	n/a	n/a
18	SP1	chr14:36988882-36989538	H1-hESC	embryonic stem cell:	n/a	chr14:36989474-36989488 chr14:36989473-36989485 chr14:36989473-36989485 chr14:36989474-36989483 chr14:36988986-36988996 chr14:36989474-36989483 chr14:36989221-36989232 chr14:36988987-36988996 chr14:36989475-36989484

Variant related genes	Relation type
ENSG00000257520	TF binding region
NKX2-1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36981400-36991200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:36986400-36989800	Enhancers	Gastric	stomach
3	chr14:36986400-36989800	Enhancers	Pancreas	Pancrea
4	chr14:36986600-36989400	Bivalent Enhancer	Spleen	Spleen
5	chr14:36987400-36989400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr14:36987800-36989800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:36988000-36989400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:36988000-36989400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr14:36988000-36989600	Active TSS	Right Atrium	heart
10	chr14:36988000-36990400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:36988200-36989400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
12	chr14:36988200-36989400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:36988200-36989400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
14	chr14:36988200-36989600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:36988200-36989600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr14:36988200-36989800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr14:36988200-36990000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr14:36988200-36990200	Bivalent/Poised TSS	HSMM	muscle
19	chr14:36988200-36990400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr14:36988200-36990400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:36988200-36990400	Bivalent Enhancer	Placenta	Placenta
22	chr14:36988200-36990600	Bivalent/Poised TSS	Fetal Lung	lung
23	chr14:36988400-36989400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:36988400-36989400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:36988400-36989400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
26	chr14:36988400-36989400	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr14:36988400-36989600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:36988400-36989600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:36988400-36990400	Bivalent Enhancer	HUVEC	blood vessel
30	chr14:36988400-36990600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr14:36988400-36991000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr14:36988600-36989400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:36988600-36989400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr14:36988600-36989400	Bivalent Enhancer	Small Intestine	intestine
35	chr14:36988600-36989600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:36988600-36989800	Bivalent/Poised TSS	Right Ventricle	heart
37	chr14:36988600-36990000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr14:36988600-36990200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:36988800-36989400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr14:36988800-36989400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:36988800-36989600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:36988800-36989600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:36988800-36989800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:36988800-36989800	Active TSS	Ovary	ovary
45	chr14:36988800-36990400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:36988800-36990400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:36988800-36990400	Bivalent Enhancer	Left Ventricle	heart
48	chr14:36988800-36990400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr14:36988800-36990400	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr14:36988800-36991200	Bivalent Enhancer	Fetal Stomach	stomach

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