Variant report

Variant	rs179336
Chromosome Location	chr14:65160584-65160585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64969883..64973217-chr14:65158643..65161451,4	MCF-7	breast:
2	chr14:65154198..65155893-chr14:65160507..65162048,2	K562	blood:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs106111	0.90[JPT][hapmap]
rs229605	0.87[CHD][hapmap]
rs229606	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs229621	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs229676	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs179336	PLEKHG3	cis	multi-tissue	Pritchard

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65149400-65169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65155400-65160800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:65155600-65165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:65155800-65163000	Weak transcription	Lung	lung
5	chr14:65156000-65163000	Weak transcription	Pancreas	Pancrea
6	chr14:65156000-65165000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:65156000-65165200	Weak transcription	Fetal Thymus	thymus
8	chr14:65156400-65160600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:65156600-65162800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:65156800-65161400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:65156800-65162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:65156800-65162800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:65156800-65162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:65156800-65163000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:65157800-65161400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:65158800-65164600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:65159000-65160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:65159000-65160800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:65159000-65161000	Enhancers	Right Ventricle	heart
20	chr14:65159000-65161000	Enhancers	Spleen	Spleen
21	chr14:65159000-65161600	Enhancers	Fetal Muscle Leg	muscle
22	chr14:65159000-65161600	Enhancers	Left Ventricle	heart
23	chr14:65159000-65161800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:65159000-65161800	Enhancers	Right Atrium	heart
25	chr14:65159000-65162000	Enhancers	Brain Angular Gyrus	brain
26	chr14:65159000-65162000	Enhancers	Brain Anterior Caudate	brain
27	chr14:65159000-65162000	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:65159000-65162000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:65159000-65162400	Enhancers	Brain Substantia Nigra	brain
30	chr14:65159000-65166000	Enhancers	Brain Hippocampus Middle	brain
31	chr14:65159200-65161800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:65159200-65161800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:65159200-65163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:65159200-65163600	Enhancers	Fetal Heart	heart
35	chr14:65159400-65160800	Weak transcription	Fetal Intestine Small	intestine
36	chr14:65159400-65161000	Enhancers	Adipose Nuclei	Adipose
37	chr14:65159600-65160600	Enhancers	Colon Smooth Muscle	Colon
38	chr14:65159600-65160800	Enhancers	Primary B cells from cord blood	blood
39	chr14:65159600-65161000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:65159600-65161200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:65159600-65161200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:65159600-65161400	Enhancers	Psoas Muscle	Psoas
43	chr14:65159600-65163000	Weak transcription	Colonic Mucosa	Colon
44	chr14:65159800-65161000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:65159800-65163000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:65160000-65160600	Enhancers	Stomach Smooth Muscle	stomach
47	chr14:65160000-65162800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:65160000-65163000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:65160000-65165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:65160000-65165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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