Variant report

Variant	rs716647
Chromosome Location	chr4:173664444-173664445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10012267	1.00[JPT][hapmap]
rs10014796	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016257	0.91[CEU][hapmap]
rs10022095	1.00[JPT][hapmap]
rs10025284	1.00[JPT][hapmap]
rs10029310	1.00[JPT][hapmap]
rs10031191	1.00[JPT][hapmap]
rs10031202	0.82[MKK][hapmap]
rs10033472	1.00[JPT][hapmap]
rs10050292	0.91[CEU][hapmap]
rs10213357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10222748	0.96[CEU][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520238	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1097574	1.00[JPT][hapmap]
rs11132960	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729518	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs11734921	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11735233	0.87[CEU][hapmap]
rs12108242	1.00[JPT][hapmap]
rs12512892	1.00[JPT][hapmap]
rs12645987	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs13104048	0.84[CEU][hapmap]
rs13134091	0.95[EUR][1000 genomes]
rs13134194	0.86[GIH][hapmap]
rs13138074	0.83[CEU][hapmap]
rs1370576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1370577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1437844	0.83[MEX][hapmap]
rs1437845	0.87[CEU][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs1437854	0.86[CEU][hapmap]
rs1437855	0.82[YRI][hapmap]
rs1437856	0.91[CEU][hapmap]
rs1455119	1.00[JPT][hapmap]
rs1540473	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1540474	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1540475	0.89[CEU][hapmap];0.82[YRI][hapmap]
rs1540476	0.84[CEU][hapmap]
rs1540478	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1561305	0.90[CEU][hapmap];0.81[YRI][hapmap]
rs1561306	0.90[CEU][hapmap]
rs1561307	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1595413	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1658515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17052104	0.83[CEU][hapmap]
rs17058762	1.00[JPT][hapmap]
rs17058765	1.00[JPT][hapmap]
rs17058894	1.00[JPT][hapmap]
rs17058922	1.00[JPT][hapmap]
rs17235632	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1821862	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1837132	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043780	0.87[CEU][hapmap]
rs2083136	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2118443	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2164822	1.00[JPT][hapmap]
rs2164823	1.00[JPT][hapmap]
rs2164824	1.00[JPT][hapmap]
rs2164826	1.00[JPT][hapmap]
rs2332544	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2332550	0.84[CEU][hapmap]
rs28552483	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579160	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28727534	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28767047	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34364219	0.94[EUR][1000 genomes]
rs35170073	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35345571	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4100737	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4315754	0.95[CEU][hapmap];0.87[YRI][hapmap]
rs4396969	0.91[CEU][hapmap];0.84[YRI][hapmap]
rs4414931	0.91[CEU][hapmap]
rs4423855	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4546224	0.86[GIH][hapmap]
rs4572851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4695893	1.00[CHB][hapmap]
rs6553647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6553648	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67168311	0.95[EUR][1000 genomes]
rs6811397	1.00[JPT][hapmap]
rs6822057	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6826006	1.00[JPT][hapmap]
rs6830773	0.87[CEU][hapmap]
rs6839897	1.00[JPT][hapmap]
rs6841156	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6844959	1.00[JPT][hapmap]
rs6848466	1.00[JPT][hapmap]
rs6853969	0.93[EUR][1000 genomes]
rs716645	0.95[CEU][hapmap]
rs716646	0.91[CEU][hapmap];0.81[YRI][hapmap]
rs7669486	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7674050	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7677835	0.83[CEU][hapmap];0.88[MEX][hapmap];0.84[EUR][1000 genomes]
rs7686162	1.00[JPT][hapmap]
rs7694956	1.00[JPT][hapmap]
rs7699455	1.00[JPT][hapmap]
rs837189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs837213	1.00[JPT][hapmap]
rs9312528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9312533	1.00[JPT][hapmap]
rs9884494	1.00[JPT][hapmap]
rs9884518	1.00[JPT][hapmap]
rs9992243	1.00[JPT][hapmap]
rs9992901	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993208	1.00[JPT][hapmap]
rs9994145	1.00[JPT][hapmap]
rs9995075	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948856	chr4:173388217-173967546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv949126	chr4:173466221-174051451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3327952	chr4:173591786-173805861	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs716647	SAP30	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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