Variant report

Variant	rs1147447
Chromosome Location	chr14:66460742-66460743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66459974..66462191-chr14:66465058..66467335,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1147435	0.86[CHB][hapmap]
rs1147437	0.86[CHB][hapmap]
rs1147444	0.88[ASN][1000 genomes]
rs1147450	0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[ASN][1000 genomes]
rs1147452	0.82[ASN][1000 genomes]
rs1444171	0.82[ASN][1000 genomes]
rs975333	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1147447	PPP2R5E	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66459000-66461200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:66459200-66461000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr14:66459200-66461400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:66459600-66460800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:66459600-66461200	Enhancers	Primary T cells from cord blood	blood
6	chr14:66459600-66461400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:66459600-66461800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:66459800-66460800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr14:66459800-66460800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:66459800-66460800	Enhancers	Dnd41	blood
11	chr14:66459800-66461000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr14:66459800-66461200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:66459800-66461200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:66459800-66461800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:66460000-66460800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:66460000-66461000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:66460000-66461400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:66460000-66461800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr14:66460000-66461800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:66460000-66462800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:66460200-66461200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:66460200-66461200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:66460200-66461400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:66460400-66461400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:66460600-66461200	Enhancers	Brain Substantia Nigra	brain
26	chr14:66460600-66461400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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