Variant report

Variant	rs564852145
Chromosome Location	chr14:35756455-35756456
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	FOSL2	chr14:35756244-35757214	HepG2	liver:	n/a	chr14:35757129-35757141
2	RELA	chr14:35755997-35757241	GM10847	blood:	n/a	chr14:35757124-35757133 chr14:35757124-35757133
3	GATA1	chr14:35756427-35757117	PBDE	blood:	n/a	chr14:35756690-35756697 chr14:35756683-35756704 chr14:35756686-35756702 chr14:35756690-35756697 chr14:35756690-35756697
4	POLR2A	chr14:35754391-35757101	GM12891	blood:	n/a	n/a
5	NFYB	chr14:35756151-35756517	GM12878	blood:	n/a	n/a
6	IKZF1	chr14:35754395-35757102	GM12878	blood:	n/a	n/a
7	RELA	chr14:35756442-35757363	GM19193	blood:	n/a	chr14:35757124-35757133 chr14:35757124-35757133
8	IRF3	chr14:35756373-35756465	GM12878	blood:	n/a	n/a
9	RELA	chr14:35756116-35757243	GM15510	blood:	n/a	chr14:35757124-35757133 chr14:35757124-35757133
10	RUNX3	chr14:35754251-35756499	GM12878	blood:	n/a	chr14:35756183-35756198
11	RELA	chr14:35754516-35757262	GM18951	blood:	n/a	chr14:35757124-35757133 chr14:35757124-35757133
12	RELA	chr14:35755985-35757280	GM19099	blood:	n/a	chr14:35757124-35757133 chr14:35757124-35757133
13	MTA3	chr14:35754207-35757268	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:35755999-35756998	GM12878	blood:	n/a	n/a
15	RELA	chr14:35755971-35757241	GM12891	blood:	n/a	chr14:35757124-35757133 chr14:35757124-35757133
16	NFIC	chr14:35755832-35757272	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:35754570-35756498	HL-60	blood:	n/a	n/a
18	EBF1	chr14:35756307-35757287	GM12878	blood:	n/a	chr14:35756840-35756851 chr14:35756805-35756814 chr14:35757043-35757052 chr14:35756802-35756813 chr14:35757043-35757053

No.	Distal block	Cell Line	Cell type
1	chr14:35753115..35758805-chr14:35759547..35762790,7	MCF-7	breast:
2	chr14:35750852..35757164-chr14:35871890..35876148,8	MCF-7	breast:
3	chr14:35749937..35752594-chr14:35754898..35756875,2	MCF-7	breast:
4	chr14:35755418..35758074-chr14:35799307..35801251,2	MCF-7	breast:
5	chr14:35755052..35758727-chr14:35759764..35761284,4	MCF-7	breast:
6	chr14:35753303..35755635-chr14:35756425..35758168,2	MCF-7	breast:
7	chr14:35755322..35757615-chr14:35761312..35763223,3	MCF-7	breast:
8	chr14:35755039..35756974-chr14:35862913..35865202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265530	TF binding region
ENSG00000265530	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000100902	Chromatin interaction

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	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1794822	chr14:35755087-35761366	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr14:35684600-35760800	Weak transcription	HSMM	muscle
2	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
5	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:35722000-35760800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:35727200-35761000	Weak transcription	NHLF	lung
8	chr14:35730200-35760600	Weak transcription	Fetal Brain Female	brain
9	chr14:35734400-35760600	Weak transcription	Right Ventricle	heart
10	chr14:35734400-35760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:35736000-35760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:35737400-35761000	Weak transcription	Gastric	stomach
13	chr14:35738800-35759400	Weak transcription	Placenta	Placenta
14	chr14:35740000-35756600	Weak transcription	NHEK	skin
15	chr14:35741200-35760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:35743400-35760800	Weak transcription	HMEC	breast
17	chr14:35743600-35760800	Weak transcription	Brain Anterior Caudate	brain
18	chr14:35743800-35760800	Weak transcription	Osteobl	bone
19	chr14:35744000-35757600	Weak transcription	Lung	lung
20	chr14:35744000-35760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:35744000-35760800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:35744000-35760800	Weak transcription	Brain Substantia Nigra	brain
23	chr14:35744000-35760800	Weak transcription	Fetal Lung	lung
24	chr14:35744000-35760800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:35744000-35761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:35744400-35760800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:35744800-35760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:35745000-35756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:35745200-35760600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:35745200-35760800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:35745400-35760800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:35745600-35760800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:35745800-35760400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:35745800-35760800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:35746000-35760800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:35746000-35760800	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:35746000-35760800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:35746000-35760800	Weak transcription	A549	lung
39	chr14:35746000-35761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:35746200-35760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:35746600-35760800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:35746600-35760800	Weak transcription	Aorta	Aorta
43	chr14:35747200-35761000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:35748000-35760600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:35750600-35761000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:35751600-35760600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:35752000-35761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:35752400-35760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:35752400-35760600	Weak transcription	Fetal Stomach	stomach
50	chr14:35753400-35756600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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