Variant report

Variant	rs56714312
Chromosome Location	chr5:147412771-147412772
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10036261	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10074782	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491341	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10491342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948836	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950029	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11951613	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11951614	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11952442	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954011	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955612	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11956309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957191	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11957744	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958071	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11958866	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11960620	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332673	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363719	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1422985	0.81[EUR][1000 genomes]
rs1422986	0.81[EUR][1000 genomes]
rs17107575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107672	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107673	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107676	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107680	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107705	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17599528	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641707	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718366	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17718385	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17718403	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17718420	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17718511	0.81[EUR][1000 genomes]
rs17718535	0.81[EUR][1000 genomes]
rs17718737	0.81[EUR][1000 genomes]
rs17774892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774947	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775044	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17775080	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17775092	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17775104	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17860502	0.81[EUR][1000 genomes]
rs1833769	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2032866	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2052530	0.94[EUR][1000 genomes]
rs2112768	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112769	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287774	0.81[EUR][1000 genomes]
rs2303069	0.81[EUR][1000 genomes]
rs3752677	0.81[EUR][1000 genomes]
rs3777138	0.81[EUR][1000 genomes]
rs4705050	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705051	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705052	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705053	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705219	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705220	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5014785	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56945766	0.81[EUR][1000 genomes]
rs57608902	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58212044	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58237290	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58359628	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58789871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58923221	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59133736	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59140447	0.81[EUR][1000 genomes]
rs59484357	0.97[AFR][1000 genomes]
rs59900981	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60978485	0.81[EUR][1000 genomes]
rs61547850	0.81[EUR][1000 genomes]
rs61612041	0.81[EUR][1000 genomes]
rs6872206	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6873949	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6881420	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6891750	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6892970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269110	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73269112	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73269121	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73271110	0.81[EUR][1000 genomes]
rs73794613	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73794614	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73794615	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73794633	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7703112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705278	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7706528	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7714069	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714855	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7719473	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7721002	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727019	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733255	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953310	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984836	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885178	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv933016	chr5:147395849-147453701	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147411600-147414200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:147411600-147414400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:147412200-147412800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:147412400-147413000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr5:147412400-147413200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:147412400-147413200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr5:147412400-147413600	Enhancers	NHEK	skin
8	chr5:147412400-147413800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:147412400-147414200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:147412600-147413400	Enhancers	HMEC	breast
11	chr5:147412600-147414000	Enhancers	Hela-S3	cervix

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