Variant report

Variant	rs4596123
Chromosome Location	chr3:151213747-151213748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10935854	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11920861	0.84[EUR][1000 genomes]
rs12485986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12496241	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4234323	0.84[EUR][1000 genomes]
rs4234324	0.81[EUR][1000 genomes]
rs4234326	0.97[EUR][1000 genomes]
rs4234327	0.97[EUR][1000 genomes]
rs4234328	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234329	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256103	0.84[EUR][1000 genomes]
rs4256104	0.96[EUR][1000 genomes]
rs4257516	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4266168	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273348	0.96[EUR][1000 genomes]
rs4296568	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4339091	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383490	0.84[EUR][1000 genomes]
rs4387942	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4402912	0.97[EUR][1000 genomes]
rs4423742	0.84[EUR][1000 genomes]
rs4452303	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4458346	0.84[EUR][1000 genomes]
rs4467429	0.84[EUR][1000 genomes]
rs4475011	0.87[EUR][1000 genomes]
rs4532110	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4541381	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs4550806	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4550807	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583622	0.97[EUR][1000 genomes]
rs4605516	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618202	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4679835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679847	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679848	0.97[EUR][1000 genomes]
rs4680474	0.84[EUR][1000 genomes]
rs4680484	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680487	0.94[EUR][1000 genomes]
rs6440749	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6440750	0.83[EUR][1000 genomes]
rs6440757	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440765	0.86[EUR][1000 genomes]
rs6767984	0.83[EUR][1000 genomes]
rs6768085	0.83[EUR][1000 genomes]
rs6768853	0.84[EUR][1000 genomes]
rs6772583	0.84[EUR][1000 genomes]
rs6773513	0.92[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6774270	0.84[EUR][1000 genomes]
rs6775810	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6778090	0.84[EUR][1000 genomes]
rs6779571	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6784030	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6785746	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6786811	0.84[EUR][1000 genomes]
rs6786901	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789689	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6792286	0.84[EUR][1000 genomes]
rs6800745	0.83[EUR][1000 genomes]
rs6810156	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7612205	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7613815	0.85[EUR][1000 genomes]
rs7615314	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];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615828	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7617483	0.96[EUR][1000 genomes]
rs7622835	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622862	0.86[EUR][1000 genomes]
rs7623843	0.97[EUR][1000 genomes]
rs7629176	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631871	0.84[EUR][1000 genomes]
rs7637276	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637567	0.97[ASN][1000 genomes]
rs7638109	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9289848	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811627	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812692	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9815081	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9816549	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821160	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9821181	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9825135	0.84[EUR][1000 genomes]
rs9825219	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829893	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830216	0.85[EUR][1000 genomes]
rs9840578	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9841068	0.97[EUR][1000 genomes]
rs9841913	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9855531	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9867936	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9876367	0.84[EUR][1000 genomes]
rs9876462	0.84[EUR][1000 genomes]
rs9877416	0.80[EUR][1000 genomes]
rs9879326	0.81[EUR][1000 genomes]
rs9880648	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881269	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9882955	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv877650	chr3:151174010-151314449	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv819466	chr3:151196634-151219966	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv528372	chr3:151210190-151218277	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4596123	GPR149	cis	cerebellum	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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