Variant report

Variant	rs1319488
Chromosome Location	chr12:30232800-30232801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1040272	0.84[ASN][1000 genomes]
rs1040273	0.84[ASN][1000 genomes]
rs10743690	0.84[ASN][1000 genomes]
rs10771622	0.81[ASN][1000 genomes]
rs10771628	0.84[ASN][1000 genomes]
rs11050623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050627	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050629	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050631	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050632	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050636	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050637	0.84[ASN][1000 genomes]
rs11050650	1.00[AMR][1000 genomes]
rs11050651	1.00[AMR][1000 genomes]
rs11050657	1.00[AMR][1000 genomes]
rs11050658	1.00[AMR][1000 genomes]
rs11050660	1.00[AMR][1000 genomes]
rs11531052	1.00[EUR][1000 genomes]
rs11532273	0.86[EUR][1000 genomes]
rs11533434	1.00[AMR][1000 genomes]
rs11559800	0.86[EUR][1000 genomes]
rs11561211	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12229030	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12578582	1.00[AMR][1000 genomes]
rs1554430	0.84[ASN][1000 genomes]
rs1554431	0.84[ASN][1000 genomes]
rs1554432	0.84[ASN][1000 genomes]
rs16935329	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16935372	1.00[AMR][1000 genomes]
rs16935387	1.00[AMR][1000 genomes]
rs1825523	1.00[EUR][1000 genomes]
rs1874800	0.84[ASN][1000 genomes]
rs1909177	0.84[ASN][1000 genomes]
rs1909178	0.84[ASN][1000 genomes]
rs1909179	0.84[ASN][1000 genomes]
rs1909180	0.84[ASN][1000 genomes]
rs2176915	0.84[ASN][1000 genomes]
rs4930878	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4930880	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57419668	0.83[ASN][1000 genomes]
rs73086173	0.97[ASN][1000 genomes]
rs7309632	0.83[ASN][1000 genomes]
rs7958643	0.84[ASN][1000 genomes]
rs7959104	0.84[ASN][1000 genomes]
rs7959152	0.84[ASN][1000 genomes]
rs7960111	0.83[ASN][1000 genomes]
rs7962142	0.81[ASN][1000 genomes]
rs7964334	0.84[ASN][1000 genomes]
rs7967351	0.86[EUR][1000 genomes]
rs7968310	0.81[ASN][1000 genomes]
rs7976943	0.81[ASN][1000 genomes]
rs7978148	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv557977	chr12:30224990-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv557978	chr12:30228188-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv557979	chr12:30228467-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv557980	chr12:30229583-30243473	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv557981	chr12:30229606-30243473	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30223000-30234200	Weak transcription	Aorta	Aorta

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