Variant report

Variant	rs73142265
Chromosome Location	chr7:65699497-65699498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10261710	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1065265	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10950027	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10950029	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10950035	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10950036	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10950040	0.88[EUR][1000 genomes]
rs11766183	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11767262	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11769702	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11770063	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12668269	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12670811	0.89[EUR][1000 genomes]
rs12671152	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12671834	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12673308	0.81[ASN][1000 genomes]
rs1547529	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs160641	0.81[ASN][1000 genomes]
rs17138149	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17138156	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1909508	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2173571	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2279757	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2420456	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2451953	0.81[ASN][1000 genomes]
rs313818	0.81[ASN][1000 genomes]
rs313823	0.81[ASN][1000 genomes]
rs35459055	0.88[EUR][1000 genomes]
rs3936065	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4718325	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4718335	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4718346	0.91[EUR][1000 genomes]
rs4718348	0.81[EUR][1000 genomes]
rs6460276	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6460281	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6460298	0.88[EUR][1000 genomes]
rs66594357	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67397473	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67775320	0.91[EUR][1000 genomes]
rs6945896	0.88[EUR][1000 genomes]
rs6969224	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6970498	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6979636	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73142233	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73142245	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73146609	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73148639	0.91[EUR][1000 genomes]
rs73148689	0.88[EUR][1000 genomes]
rs73376394	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73376401	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7782212	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7783727	0.89[ASN][1000 genomes]
rs7783889	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7785117	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7786728	0.80[EUR][1000 genomes]
rs7786735	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801332	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7811204	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73142265	GS1-124K5.11	cis	Thyroid	GTEx
rs73142265	GS1-124K5.4	cis	Stomach	GTEx
rs73142265	GTF2IRD1P1	cis	Thyroid	GTEx
rs73142265	RNU6-96P	cis	Thyroid	GTEx
rs73142265	RP4-756H11.3	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
2	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:65686800-65701600	Weak transcription	Osteobl	bone
4	chr7:65686800-65715400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:65687000-65701800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:65687000-65701800	Weak transcription	NHDF-Ad	bronchial
7	chr7:65687800-65701800	Weak transcription	Spleen	Spleen
8	chr7:65687800-65703400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:65689400-65703600	Weak transcription	NHLF	lung
10	chr7:65689600-65701800	Weak transcription	Gastric	stomach
11	chr7:65689600-65715800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:65689800-65701800	Weak transcription	Fetal Lung	lung
13	chr7:65689800-65701800	Weak transcription	HMEC	breast
14	chr7:65689800-65702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:65690200-65701800	Weak transcription	Ovary	ovary
16	chr7:65691200-65700200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:65695800-65709400	Weak transcription	Psoas Muscle	Psoas
18	chr7:65696600-65701800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:65696600-65701800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:65696600-65702000	Weak transcription	Lung	lung
21	chr7:65697000-65701600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:65697000-65705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:65697000-65705400	Weak transcription	Fetal Stomach	stomach
24	chr7:65697800-65701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:65698400-65701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:65698400-65701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:65698600-65701800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:65698600-65702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:65698600-65703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:65699000-65712400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:65699200-65701800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:65699200-65701800	Weak transcription	Liver	Liver
33	chr7:65699200-65702000	Weak transcription	Esophagus	oesophagus
34	chr7:65699200-65702000	Weak transcription	Left Ventricle	heart

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