Variant report

Variant	rs73139976
Chromosome Location	chr7:66283141-66283142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10156059	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10224189	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224536	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10225392	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10226191	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228381	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229580	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10231411	0.82[EUR][1000 genomes]
rs10231860	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10234640	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234747	0.84[EUR][1000 genomes]
rs10235037	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10240153	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10240582	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10241395	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10242870	0.82[EUR][1000 genomes]
rs10243608	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244459	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10245017	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247324	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247815	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256117	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10258628	0.84[EUR][1000 genomes]
rs10265154	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266041	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10266792	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10267253	0.82[EUR][1000 genomes]
rs10270326	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10271177	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10273402	0.85[ASN][1000 genomes]
rs10277231	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10280717	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10280816	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10281090	0.81[EUR][1000 genomes]
rs10281544	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10282310	0.84[EUR][1000 genomes]
rs1060527	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1064795	0.84[EUR][1000 genomes]
rs12333749	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13437994	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13438432	0.84[EUR][1000 genomes]
rs17138274	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17747927	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748115	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1882656	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882657	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2013707	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28375318	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28379824	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28460006	0.84[EUR][1000 genomes]
rs28472679	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28501161	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28533332	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28547918	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28560293	0.80[EUR][1000 genomes]
rs28607736	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28634091	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28641990	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28663128	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28675035	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28817095	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3764904	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3778907	0.84[EUR][1000 genomes]
rs3778908	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800814	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800818	0.88[EUR][1000 genomes]
rs3823609	0.84[EUR][1000 genomes]
rs3962133	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718417	0.88[EUR][1000 genomes]
rs57774708	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57875851	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57902746	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59079543	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59693594	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60026498	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60972148	0.88[EUR][1000 genomes]
rs61700307	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67408913	0.82[EUR][1000 genomes]
rs6964080	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965680	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6973897	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71526586	0.82[EUR][1000 genomes]
rs73133816	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73133859	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73133865	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135905	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135907	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135909	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135917	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135922	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135925	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135950	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135960	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135973	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137960	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137963	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137978	0.84[ASN][1000 genomes]
rs73141980	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143921	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73145911	0.82[EUR][1000 genomes]
rs73145924	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73151646	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7455757	0.82[EUR][1000 genomes]
rs7785883	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7796977	0.81[EUR][1000 genomes]
rs7809359	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7809535	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs868960	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9654843	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][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	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
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981513	chr7:66276464-66291614	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73139976	GS1-124K5.12	cis	Artery Tibial	GTEx
rs73139976	GS1-124K5.12	cis	lung	GTEx
rs73139976	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73139976	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66276800-66284800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:66277800-66284800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:66277800-66288600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:66278800-66284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:66279000-66283400	Weak transcription	Fetal Stomach	stomach
6	chr7:66280600-66283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:66282200-66283800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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