Variant report

Variant	rs229665
Chromosome Location	chr14:65171318-65171319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64968210..64972351-chr14:65168934..65172584,5	MCF-7	breast:
2	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
3	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
4	chr14:65171254..65174488-chr14:65196605..65199995,3	MCF-7	breast:
5	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:
6	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
7	chr14:64968319..64971699-chr14:65168654..65172546,5	MCF-7	breast:
8	chr14:65170634..65173219-chr14:65206307..65208864,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1998120	0.86[EUR][1000 genomes]
rs229603	0.88[EUR][1000 genomes]
rs229659	0.86[EUR][1000 genomes]
rs229660	0.86[EUR][1000 genomes]
rs229662	0.89[EUR][1000 genomes]
rs229663	0.82[EUR][1000 genomes]
rs229664	0.88[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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3437023	chr14:65170024-65173072	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs229665	PLEKHG3	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65169200-65172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65169400-65172600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:65169600-65171400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr14:65169600-65172200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:65169800-65172200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr14:65169800-65172200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:65169800-65172400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:65169800-65172600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr14:65169800-65173600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr14:65170000-65172600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:65170000-65176600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr14:65170200-65172200	Active TSS	Small Intestine	intestine
13	chr14:65170200-65172600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:65170400-65172400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:65170400-65172400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:65170400-65172600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:65170400-65172800	Active TSS	Brain Cingulate Gyrus	brain
18	chr14:65170600-65171600	Flanking Bivalent TSS/Enh	Thymus	Thymus
19	chr14:65170600-65172000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:65170600-65172200	Active TSS	Esophagus	oesophagus
21	chr14:65170600-65172400	Active TSS	Fetal Kidney	kidney
22	chr14:65170600-65172400	Active TSS	Ovary	ovary
23	chr14:65170600-65172600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:65170600-65172800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:65170600-65172800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr14:65170600-65173200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:65170600-65173400	Active TSS	Aorta	Aorta
28	chr14:65170800-65171400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:65170800-65171600	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
30	chr14:65170800-65171600	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr14:65170800-65171800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:65170800-65171800	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr14:65170800-65171800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr14:65170800-65171800	Active TSS	Fetal Lung	lung
35	chr14:65170800-65171800	Active TSS	Placenta	Placenta
36	chr14:65170800-65172000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:65170800-65172000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:65170800-65172000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:65170800-65172000	Active TSS	Stomach Mucosa	stomach
40	chr14:65170800-65172000	Bivalent/Poised TSS	HepG2	liver
41	chr14:65170800-65172200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:65170800-65172200	Active TSS	A549	lung
43	chr14:65170800-65172200	Active TSS	HSMMtube	muscle
44	chr14:65170800-65172400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr14:65170800-65172400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr14:65170800-65172400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:65170800-65172400	Active TSS	Placenta Amnion	Placenta Amnion
48	chr14:65170800-65172400	Active TSS	Rectal Smooth Muscle	rectum
49	chr14:65170800-65172400	Active TSS	NHDF-Ad	bronchial
50	chr14:65170800-65172600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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