Variant report

Variant	rs7153228
Chromosome Location	chr14:56470106-56470107
allele	C/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	RCOR1	chr14:56469670-56470170	GM12878	blood:	n/a	n/a
2	EBF1	chr14:56469723-56470201	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:56469594-56470188	GM12878	blood:	n/a	n/a
4	RUNX3	chr14:56469659-56470149	GM12878	blood:	n/a	n/a
5	RUNX3	chr14:56469633-56470139	GM12878	blood:	n/a	n/a
6	CTCF	chr14:56470060-56470210	HAc	cerebellar:	n/a	n/a
7	EP300	chr14:56469632-56470119	GM12878	blood:	n/a	n/a
8	CTCF	chr14:56470100-56470250	GM12871	blood:	n/a	n/a
9	PBX3	chr14:56470042-56470227	GM12878	blood:	n/a	n/a
10	RAD21	chr14:56469944-56470320	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:56470060-56470210	AG04449	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000213622	TF binding region

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11158069	1.00[EUR][1000 genomes]
rs59075846	1.00[EUR][1000 genomes]
rs60661539	1.00[EUR][1000 genomes]
rs6573076	1.00[EUR][1000 genomes]
rs7143060	1.00[EUR][1000 genomes]
rs7143949	1.00[EUR][1000 genomes]
rs7145404	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56466400-56471000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:56468200-56473000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:56468400-56471400	Enhancers	NH-A	brain
4	chr14:56468600-56470400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:56468600-56472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:56468800-56470200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:56468800-56471000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:56468800-56471600	Enhancers	Brain Germinal Matrix	brain
9	chr14:56468800-56471800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:56468800-56472000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:56468800-56472400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr14:56468800-56472600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr14:56468800-56472800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:56469000-56471600	Enhancers	Fetal Intestine Small	intestine
15	chr14:56469000-56472000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:56469000-56472000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:56469000-56472200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:56469000-56472400	Enhancers	Fetal Brain Male	brain
19	chr14:56469000-56472600	Bivalent Enhancer	Fetal Thymus	thymus
20	chr14:56469200-56470200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr14:56469200-56470800	Flanking Active TSS	Dnd41	blood
22	chr14:56469200-56471400	Enhancers	Fetal Brain Female	brain
23	chr14:56469400-56471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:56469400-56471800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:56469400-56471800	Enhancers	Fetal Intestine Large	intestine
26	chr14:56469600-56471000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:56469600-56471400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:56469600-56473200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:56469800-56470200	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:56469800-56470400	Bivalent Enhancer	Thymus	Thymus
31	chr14:56469800-56470800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:56469800-56470800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:56469800-56470800	Weak transcription	Osteobl	bone
34	chr14:56469800-56471800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:56470000-56470200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:56470000-56470200	Enhancers	Brain Anterior Caudate	brain
37	chr14:56470000-56470200	Enhancers	Fetal Muscle Trunk	muscle
38	chr14:56470000-56470400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr14:56470000-56471200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:56470000-56472800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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