Variant report

Variant	rs10172305
Chromosome Location	chr2:178237401-178237402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs10173008	1.00[ASN][1000 genomes]
rs10173172	1.00[ASN][1000 genomes]
rs10176724	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179735	1.00[ASN][1000 genomes]
rs10180514	0.86[EUR][1000 genomes]
rs10184488	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10190306	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10194452	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10196753	1.00[ASN][1000 genomes]
rs10196915	1.00[ASN][1000 genomes]
rs10208055	0.90[EUR][1000 genomes]
rs10497505	0.89[EUR][1000 genomes]
rs10497506	0.89[EUR][1000 genomes]
rs10497509	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10497510	1.00[ASN][1000 genomes]
rs10754987	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10754988	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10803911	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10930786	1.00[ASN][1000 genomes]
rs10930788	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10930789	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930790	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10930791	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10930793	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10930796	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10930797	0.81[AFR][1000 genomes]
rs11889478	1.00[ASN][1000 genomes]
rs11889488	0.81[AFR][1000 genomes]
rs11891003	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12468046	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12478545	0.89[EUR][1000 genomes]
rs12612957	0.91[EUR][1000 genomes]
rs12621156	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693118	1.00[ASN][1000 genomes]
rs12693119	1.00[ASN][1000 genomes]
rs12693121	0.91[EUR][1000 genomes]
rs12997516	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13007779	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13431105	0.81[AFR][1000 genomes]
rs1348852	0.81[AFR][1000 genomes]
rs1349762	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377491	1.00[ASN][1000 genomes]
rs1446837	0.87[EUR][1000 genomes]
rs1446838	0.89[EUR][1000 genomes]
rs1453369	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453376	1.00[ASN][1000 genomes]
rs1463287	1.00[ASN][1000 genomes]
rs1463288	1.00[ASN][1000 genomes]
rs1466208	1.00[ASN][1000 genomes]
rs1530965	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1545363	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1551287	1.00[ASN][1000 genomes]
rs1551288	1.00[ASN][1000 genomes]
rs1551289	1.00[ASN][1000 genomes]
rs1551290	1.00[ASN][1000 genomes]
rs1584806	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597959	1.00[ASN][1000 genomes]
rs17326999	0.90[EUR][1000 genomes]
rs17398864	0.91[EUR][1000 genomes]
rs17648502	1.00[ASN][1000 genomes]
rs1852530	0.81[AFR][1000 genomes]
rs1869357	1.00[ASN][1000 genomes]
rs1901823	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1901828	1.00[ASN][1000 genomes]
rs1973045	1.00[ASN][1000 genomes]
rs1979059	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2044493	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2084966	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084967	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2100395	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2123641	1.00[ASN][1000 genomes]
rs2123643	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123644	1.00[ASN][1000 genomes]
rs2123645	1.00[ASN][1000 genomes]
rs2166556	0.91[EUR][1000 genomes]
rs2166557	0.89[EUR][1000 genomes]
rs2167902	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2167903	1.00[ASN][1000 genomes]
rs2167904	1.00[ASN][1000 genomes]
rs2178017	0.90[AFR][1000 genomes]
rs2364846	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364847	1.00[ASN][1000 genomes]
rs2364849	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364850	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364851	0.89[EUR][1000 genomes]
rs2364852	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2365616	0.81[AFR][1000 genomes]
rs2444563	1.00[ASN][1000 genomes]
rs2444564	1.00[ASN][1000 genomes]
rs2464655	1.00[ASN][1000 genomes]
rs2602527	1.00[ASN][1000 genomes]
rs2602528	1.00[ASN][1000 genomes]
rs2706143	1.00[ASN][1000 genomes]
rs2706144	1.00[ASN][1000 genomes]
rs2706145	1.00[ASN][1000 genomes]
rs2706146	1.00[ASN][1000 genomes]
rs2706150	1.00[ASN][1000 genomes]
rs2706153	1.00[ASN][1000 genomes]
rs2706154	1.00[ASN][1000 genomes]
rs2706155	1.00[ASN][1000 genomes]
rs2706156	1.00[ASN][1000 genomes]
rs2706157	1.00[ASN][1000 genomes]
rs2706158	1.00[ASN][1000 genomes]
rs2706162	1.00[ASN][1000 genomes]
rs2706163	1.00[ASN][1000 genomes]
rs3754989	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3813260	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3952496	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308151	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4335983	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4350784	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402804	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4585065	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4893826	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893827	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893940	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4893942	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4893943	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4893955	0.89[EUR][1000 genomes]
rs56951837	1.00[ASN][1000 genomes]
rs57890299	0.85[EUR][1000 genomes]
rs6433661	1.00[ASN][1000 genomes]
rs6433662	1.00[ASN][1000 genomes]
rs6433664	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433666	0.89[EUR][1000 genomes]
rs6433672	0.90[AFR][1000 genomes]
rs6433674	0.90[EUR][1000 genomes]
rs6433675	0.91[EUR][1000 genomes]
rs6433676	0.91[EUR][1000 genomes]
rs6433677	0.89[EUR][1000 genomes]
rs6715365	0.91[EUR][1000 genomes]
rs6717457	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6719114	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6719278	1.00[ASN][1000 genomes]
rs6720483	0.96[EUR][1000 genomes]
rs6721168	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725096	0.89[EUR][1000 genomes]
rs6732113	1.00[ASN][1000 genomes]
rs6732250	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6732256	1.00[ASN][1000 genomes]
rs6739792	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741974	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744488	0.89[EUR][1000 genomes]
rs6752779	0.81[AFR][1000 genomes]
rs6754660	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759567	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72946169	1.00[ASN][1000 genomes]
rs7559715	1.00[ASN][1000 genomes]
rs7566603	1.00[ASN][1000 genomes]
rs7566686	1.00[ASN][1000 genomes]
rs7568452	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7570297	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7573334	1.00[ASN][1000 genomes]
rs7573583	1.00[ASN][1000 genomes]
rs7585952	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7588444	1.00[ASN][1000 genomes]
rs7589927	0.91[EUR][1000 genomes]
rs7594073	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7601132	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7604299	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604668	0.89[EUR][1000 genomes]
rs7608135	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9288001	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952034	1.00[ASN][1000 genomes]
rs9789580	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9917193	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9917333	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941681	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10172305	AGPS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178203400-178244400	Weak transcription	HSMM	muscle
2	chr2:178218000-178256200	Weak transcription	HepG2	liver
3	chr2:178221600-178240600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:178232800-178244400	Weak transcription	Dnd41	blood
5	chr2:178235400-178256600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:178235800-178244600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:178237400-178244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:178237400-178244400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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