Variant report

Variant	rs541524052
Chromosome Location	chr14:36988997-36988998
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	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	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
5	SIN3A	chr14:36988536-36989516	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr14:36987755-36989534	HEK293-T-REx	kidney:	n/a	n/a
7	CTBP2	chr14:36987100-36990550	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr14:36988865-36989401	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr14:36988852-36989430	H1-hESC	embryonic stem cell:	n/a	n/a
10	SUZ12	chr14:36985791-36990585	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr14:36988662-36989430	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr14:36988772-36989425	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr14:36988862-36989215	H1-hESC	embryonic stem cell:	n/a	n/a
14	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:97 , 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	chr14:36986400-36989000	Bivalent Enhancer	Liver	Liver
3	chr14:36986400-36989200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:36986400-36989800	Enhancers	Gastric	stomach
5	chr14:36986400-36989800	Enhancers	Pancreas	Pancrea
6	chr14:36986600-36989400	Bivalent Enhancer	Spleen	Spleen
7	chr14:36987400-36989400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr14:36987800-36989800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:36988000-36989000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr14:36988000-36989200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr14:36988000-36989400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:36988000-36989400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
13	chr14:36988000-36989600	Active TSS	Right Atrium	heart
14	chr14:36988000-36990400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:36988200-36989200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:36988200-36989200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:36988200-36989200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:36988200-36989200	Active TSS	Aorta	Aorta
19	chr14:36988200-36989200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
20	chr14:36988200-36989400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr14:36988200-36989400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:36988200-36989400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
23	chr14:36988200-36989600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:36988200-36989600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr14:36988200-36989800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
26	chr14:36988200-36990000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
27	chr14:36988200-36990200	Bivalent/Poised TSS	HSMM	muscle
28	chr14:36988200-36990400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr14:36988200-36990400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:36988200-36990400	Bivalent Enhancer	Placenta	Placenta
31	chr14:36988200-36990600	Bivalent/Poised TSS	Fetal Lung	lung
32	chr14:36988400-36989000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
33	chr14:36988400-36989000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr14:36988400-36989000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
35	chr14:36988400-36989000	Flanking Active TSS	Lung	lung
36	chr14:36988400-36989200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:36988400-36989200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:36988400-36989200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr14:36988400-36989400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr14:36988400-36989400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:36988400-36989400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
42	chr14:36988400-36989400	Flanking Bivalent TSS/Enh	NHEK	skin
43	chr14:36988400-36989600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:36988400-36989600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:36988400-36990400	Bivalent Enhancer	HUVEC	blood vessel
46	chr14:36988400-36990600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr14:36988400-36991000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr14:36988600-36989000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr14:36988600-36989000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:36988600-36989000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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