Variant report

Variant	rs4718325
Chromosome Location	chr7:65680310-65680311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10261710	0.90[EUR][1000 genomes]
rs1065265	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10950024	0.83[ASN][1000 genomes]
rs10950025	0.85[ASN][1000 genomes]
rs10950027	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10950029	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10950035	0.94[EUR][1000 genomes]
rs10950036	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11760805	0.86[ASN][1000 genomes]
rs11766183	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11767262	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11767833	0.83[ASN][1000 genomes]
rs11769702	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11770063	0.94[EUR][1000 genomes]
rs12666485	0.86[ASN][1000 genomes]
rs12668269	0.85[EUR][1000 genomes]
rs12670811	0.86[EUR][1000 genomes]
rs12671834	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12673308	0.87[ASN][1000 genomes]
rs1547529	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs160641	0.87[ASN][1000 genomes]
rs17138089	0.82[ASN][1000 genomes]
rs17138149	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17138156	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1909508	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2173571	0.94[EUR][1000 genomes]
rs2279757	0.93[EUR][1000 genomes]
rs2420456	0.93[EUR][1000 genomes]
rs2451953	0.87[ASN][1000 genomes]
rs2460427	0.85[ASN][1000 genomes]
rs2465121	0.86[ASN][1000 genomes]
rs28815324	0.80[ASN][1000 genomes]
rs313817	0.83[ASN][1000 genomes]
rs313818	0.87[ASN][1000 genomes]
rs313823	0.87[ASN][1000 genomes]
rs316305	0.85[ASN][1000 genomes]
rs316306	0.85[ASN][1000 genomes]
rs316316	0.86[ASN][1000 genomes]
rs316320	0.85[ASN][1000 genomes]
rs316323	0.85[ASN][1000 genomes]
rs316324	0.86[ASN][1000 genomes]
rs316328	0.86[ASN][1000 genomes]
rs3936065	0.92[EUR][1000 genomes]
rs4441996	0.86[ASN][1000 genomes]
rs4718335	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4718346	0.87[EUR][1000 genomes]
rs6460276	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460281	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460298	0.85[EUR][1000 genomes]
rs66594357	0.93[EUR][1000 genomes]
rs67302640	0.84[ASN][1000 genomes]
rs67397473	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67688847	0.86[ASN][1000 genomes]
rs67775320	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6960870	0.86[ASN][1000 genomes]
rs6969224	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6970498	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6979636	0.94[EUR][1000 genomes]
rs73136346	0.86[ASN][1000 genomes]
rs73142233	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73142245	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73142265	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73146609	0.94[EUR][1000 genomes]
rs73148639	0.87[EUR][1000 genomes]
rs73148689	0.85[EUR][1000 genomes]
rs73376394	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73376401	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782212	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7783727	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7783889	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7785117	0.92[EUR][1000 genomes]
rs7786728	0.82[ASN][1000 genomes]
rs7786735	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7787063	0.86[ASN][1000 genomes]
rs7801332	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7811204	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3389228	chr7:65679117-65681065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4718325	GTF2IRD1P1	cis	Thyroid	GTEx
rs4718325	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs4718325	GS1-124K5.11	cis	Thyroid	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65671600-65685400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:65671600-65689000	Weak transcription	Pancreas	Pancrea
3	chr7:65671800-65682200	Weak transcription	Left Ventricle	heart
4	chr7:65672200-65687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
6	chr7:65672600-65687600	Weak transcription	Brain Germinal Matrix	brain
7	chr7:65673000-65689000	Weak transcription	HMEC	breast
8	chr7:65673400-65689000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:65673600-65682800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:65674000-65688800	Weak transcription	Ovary	ovary
11	chr7:65675600-65685400	Weak transcription	Esophagus	oesophagus
12	chr7:65676000-65681000	Weak transcription	Liver	Liver
13	chr7:65676000-65684400	Weak transcription	HepG2	liver
14	chr7:65676000-65689000	Weak transcription	Lung	lung
15	chr7:65676000-65696200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:65676200-65696200	Weak transcription	Fetal Stomach	stomach
18	chr7:65676600-65691200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:65676600-65693200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:65676800-65685400	Weak transcription	Gastric	stomach
21	chr7:65677000-65694600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:65677200-65693800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:65677800-65688800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:65679000-65683600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:65679200-65681600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:65679200-65684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:65679200-65685400	Weak transcription	NHDF-Ad	bronchial
28	chr7:65679200-65686200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:65679200-65686200	Weak transcription	Osteobl	bone
30	chr7:65679200-65686600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:65679200-65686600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:65679200-65687600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:65679200-65688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:65679800-65683200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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