Variant report

Variant	rs73273549
Chromosome Location	chr14:65202995-65202996
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	EP300	chr14:65202897-65205567	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr14:65202941-65205411	ECC-1	luminal epithelium:	n/a	chr14:65205006-65205014 chr14:65204275-65204283
3	MAX	chr14:65202973-65203890	ECC-1	luminal epithelium:	n/a	chr14:65203307-65203316
4	NFIC	chr14:65202879-65203979	ECC-1	luminal epithelium:	n/a	n/a
5	ZBTB7A	chr14:65202967-65205326	ECC-1	luminal epithelium:	n/a	chr14:65205006-65205014 chr14:65204275-65204283
6	TCF12	chr14:65202990-65204052	ECC-1	luminal epithelium:	n/a	chr14:65203290-65203300
7	TCF12	chr14:65202903-65204057	ECC-1	luminal epithelium:	n/a	chr14:65203290-65203300
8	RAD21	chr14:65202935-65203847	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65201615..65203157-chr14:65220105..65223085,2	K562	blood:
2	chr14:65202287..65204221-chr14:65212504..65215467,2	MCF-7	breast:
3	chr14:65160629..65162751-chr14:65201298..65203943,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17179970	0.95[ASN][1000 genomes]
rs17179984	0.95[ASN][1000 genomes]
rs17180090	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17767188	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17767206	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985465	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1985466	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1998120	0.91[ASN][1000 genomes]
rs229603	0.83[ASN][1000 genomes]
rs229620	0.87[ASN][1000 genomes]
rs229624	0.95[ASN][1000 genomes]
rs229625	0.87[ASN][1000 genomes]
rs229626	0.87[ASN][1000 genomes]
rs229644	0.87[ASN][1000 genomes]
rs229646	0.80[ASN][1000 genomes]
rs229650	0.87[ASN][1000 genomes]
rs229651	0.87[ASN][1000 genomes]
rs229655	0.87[ASN][1000 genomes]
rs229659	0.83[ASN][1000 genomes]
rs229660	0.83[ASN][1000 genomes]
rs229662	1.00[ASN][1000 genomes]
rs229663	1.00[ASN][1000 genomes]
rs229664	1.00[ASN][1000 genomes]
rs41301473	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307086	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58789159	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273513	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273517	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73273524	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273534	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273546	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs754435	1.00[ASN][1000 genomes]
rs872296	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73273549	PLEKHG3	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
2	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:65192400-65210400	Weak transcription	Osteobl	bone
4	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
5	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
7	chr14:65193600-65203200	Strong transcription	Fetal Stomach	stomach
8	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
10	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:65194000-65203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:65194000-65203000	Strong transcription	Placenta	Placenta
14	chr14:65194000-65209000	Weak transcription	Small Intestine	intestine
15	chr14:65194200-65204800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:65194600-65203000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:65195000-65207200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:65195800-65203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:65196000-65208200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:65196600-65203400	Weak transcription	Right Atrium	heart
22	chr14:65196600-65212200	Weak transcription	NHLF	lung
23	chr14:65197000-65203000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:65197000-65203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:65197200-65206000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:65197800-65203000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:65199000-65205200	Weak transcription	NH-A	brain
29	chr14:65199600-65207800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:65199800-65203000	Weak transcription	Brain Angular Gyrus	brain
31	chr14:65199800-65203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:65199800-65203800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:65199800-65205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:65199800-65205600	Weak transcription	Fetal Lung	lung
35	chr14:65200200-65204400	Genic enhancers	Brain Hippocampus Middle	brain
36	chr14:65200400-65203000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:65200400-65203000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:65200400-65203000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:65200400-65203000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:65200400-65203000	Weak transcription	Stomach Mucosa	stomach
41	chr14:65200400-65203400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:65200400-65205400	Weak transcription	Brain Germinal Matrix	brain
43	chr14:65200400-65207600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:65200600-65203800	Genic enhancers	Adipose Nuclei	Adipose
45	chr14:65200600-65204400	Weak transcription	Left Ventricle	heart
46	chr14:65200600-65206000	Weak transcription	Fetal Brain Female	brain
47	chr14:65200800-65203000	Enhancers	Primary T cells from cord blood	blood
48	chr14:65200800-65203000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:65200800-65203000	Weak transcription	Aorta	Aorta
50	chr14:65200800-65204400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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