Variant report

Variant	rs73273517
Chromosome Location	chr14:65191782-65191783
allele	C/G
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	FOS	chr14:65191714-65191948	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr14:65190823-65191877	U2OS	brain:	n/a	chr14:65191161-65191169
3	FOS	chr14:65191695-65192016	MCF10A-Er-Src	breast:	n/a	n/a
4	KAP1	chr14:65190595-65191842	HEK293	kidney:	n/a	chr14:65191161-65191169

No.	Distal block	Cell Line	Cell type
1	chr14:65187766..65189272-chr14:65190644..65193046,2	K562	blood:
2	chr14:65191538..65193121-chr14:65193412..65195953,2	MCF-7	breast:
3	chr14:65191318..65193441-chr14:65221320..65224272,2	MCF-7	breast:
4	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
5	chr14:64969164..64972149-chr14:65189834..65193113,3	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17179970	0.87[ASN][1000 genomes]
rs17179984	0.87[ASN][1000 genomes]
rs17180090	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767188	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767206	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985465	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985466	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1998120	1.00[ASN][1000 genomes]
rs229624	0.87[ASN][1000 genomes]
rs229646	0.88[ASN][1000 genomes]
rs229659	0.92[ASN][1000 genomes]
rs229660	0.92[ASN][1000 genomes]
rs229662	0.91[ASN][1000 genomes]
rs229663	0.91[ASN][1000 genomes]
rs229664	0.91[ASN][1000 genomes]
rs41301473	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41307086	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58789159	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73273513	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73273524	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73273534	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73273536	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73273546	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73273549	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs754435	0.91[ASN][1000 genomes]
rs872296	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73273517	PLEKHG3	cis	Whole Blood	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:65181800-65192400	Enhancers	Adipose Nuclei	Adipose
4	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr14:65182800-65193800	Enhancers	Esophagus	oesophagus
6	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
7	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
8	chr14:65183400-65194200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65183600-65193800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:65183800-65191800	Weak transcription	Brain Germinal Matrix	brain
11	chr14:65183800-65193400	Enhancers	Right Atrium	heart
12	chr14:65183800-65193800	Enhancers	Pancreas	Pancrea
13	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
14	chr14:65184200-65193800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:65184600-65193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:65185800-65193600	Enhancers	Brain Angular Gyrus	brain
17	chr14:65186200-65192400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:65186400-65192400	Enhancers	Osteobl	bone
19	chr14:65186400-65194400	Enhancers	Fetal Intestine Large	intestine
20	chr14:65186800-65194200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:65187000-65192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:65187000-65197400	Enhancers	Primary T cells from cord blood	blood
23	chr14:65187200-65193400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:65187400-65195200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr14:65187600-65193200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:65187600-65194000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65188000-65192400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:65188000-65192800	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:65188200-65192800	Weak transcription	HUVEC	blood vessel
30	chr14:65188200-65194000	Enhancers	Colonic Mucosa	Colon
31	chr14:65188400-65193200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:65188600-65193200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:65188600-65193200	Weak transcription	HSMM	muscle
34	chr14:65188600-65193600	Enhancers	Colon Smooth Muscle	Colon
35	chr14:65188800-65195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:65189200-65192200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:65189400-65192000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:65189400-65193400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:65189600-65192200	Weak transcription	HSMMtube	muscle
40	chr14:65189800-65192200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:65189800-65194400	Weak transcription	Aorta	Aorta
42	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:65190200-65193400	Enhancers	Fetal Muscle Leg	muscle
44	chr14:65190200-65193800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:65190400-65191800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:65190400-65191800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:65190400-65192400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:65190400-65192800	Enhancers	Left Ventricle	heart
49	chr14:65190400-65192800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr14:65190400-65193000	Enhancers	Cortex derived primary cultured neurospheres	brain

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