Variant report

Variant	rs542668482
Chromosome Location	chr14:66978994-66978995
allele	C/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	CUX1	chr14:66978599-66979019	GM12878	blood:	n/a	n/a
2	TBP	chr14:66978625-66979097	GM12878	blood:	n/a	n/a
3	EP300	chr14:66978540-66979062	GM12878	blood:	n/a	n/a
4	MXI1	chr14:66978570-66979086	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr14:66978642-66979030	GM12878	blood:	n/a	n/a
6	NFYB	chr14:66978785-66979024	GM12878	blood:	n/a	n/a
7	ZNF384	chr14:66978473-66979121	GM12878	blood:	n/a	n/a
8	EP300	chr14:66978642-66979077	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258561	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2755038	chr14:66869437-67041440	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv902027	chr14:66975857-67059231	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv983960	chr14:66977837-66980662	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66976400-66980400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:66976600-66980400	Enhancers	Dnd41	blood
3	chr14:66976600-66989800	Weak transcription	Aorta	Aorta
4	chr14:66976800-66983600	Weak transcription	Psoas Muscle	Psoas
5	chr14:66977000-66979800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:66977000-66979800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:66977000-66981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:66977000-66981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:66977400-66979600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:66977600-66997200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:66977800-66979000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:66977800-66979000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:66977800-66979200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:66977800-66979400	Enhancers	Liver	Liver
15	chr14:66978200-66979400	Flanking Active TSS	GM12878-XiMat	blood
16	chr14:66978400-66980400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr14:66978600-66979200	Enhancers	HepG2	liver
18	chr14:66978600-66979400	Enhancers	Fetal Heart	heart
19	chr14:66978600-66980000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:66978600-66982600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:66978800-66979000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:66978800-66979000	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:66978800-66979000	Enhancers	Hela-S3	cervix
24	chr14:66978800-66979200	Enhancers	Primary T cells from cord blood	blood
25	chr14:66978800-66979200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:66978800-66979200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:66978800-66979200	Enhancers	Adipose Nuclei	Adipose
28	chr14:66978800-66979400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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