Variant report

Variant	rs354128
Chromosome Location	chr12:30505536-30505537
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10082751	1.00[CEU][hapmap]
rs10082827	0.85[CEU][hapmap]
rs10083054	0.94[CEU][hapmap]
rs10506066	1.00[CEU][hapmap]
rs10771703	0.95[ASN][1000 genomes]
rs10843729	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843730	0.93[ASN][1000 genomes]
rs10843732	0.89[ASN][1000 genomes]
rs11050819	0.94[CEU][hapmap];0.83[GIH][hapmap]
rs11050839	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050840	0.84[ASN][1000 genomes]
rs11050841	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050842	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050843	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050844	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050845	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050846	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050855	1.00[EUR][1000 genomes]
rs11050856	1.00[EUR][1000 genomes]
rs11050857	1.00[EUR][1000 genomes]
rs11050861	0.95[EUR][1000 genomes]
rs11050862	0.95[EUR][1000 genomes]
rs11050863	0.95[EUR][1000 genomes]
rs11050865	0.93[EUR][1000 genomes]
rs11833825	0.94[EUR][1000 genomes]
rs11836218	0.95[EUR][1000 genomes]
rs12578733	0.95[EUR][1000 genomes]
rs12578937	0.98[EUR][1000 genomes]
rs12579164	0.98[EUR][1000 genomes]
rs12579212	1.00[EUR][1000 genomes]
rs12579259	1.00[EUR][1000 genomes]
rs12579283	1.00[EUR][1000 genomes]
rs12579317	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579379	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579517	1.00[EUR][1000 genomes]
rs12580125	0.95[EUR][1000 genomes]
rs12580134	0.95[EUR][1000 genomes]
rs12580148	0.95[EUR][1000 genomes]
rs12580195	0.95[EUR][1000 genomes]
rs12580203	0.98[EUR][1000 genomes]
rs12580204	0.96[EUR][1000 genomes]
rs12580209	0.95[EUR][1000 genomes]
rs12580501	0.95[EUR][1000 genomes]
rs12581209	0.94[EUR][1000 genomes]
rs12581410	0.98[EUR][1000 genomes]
rs12582064	1.00[EUR][1000 genomes]
rs12582079	0.90[EUR][1000 genomes]
rs12582654	0.93[EUR][1000 genomes]
rs12582684	0.95[EUR][1000 genomes]
rs1320922	0.94[CEU][hapmap];0.83[GIH][hapmap]
rs1320923	0.94[CEU][hapmap]
rs1320925	0.94[CEU][hapmap]
rs1429622	1.00[CEU][hapmap]
rs1588009	0.95[ASN][1000 genomes]
rs1588011	0.95[ASN][1000 genomes]
rs1612581	0.92[CEU][hapmap]
rs1613702	0.89[CHD][hapmap]
rs1652138	0.87[CEU][hapmap];0.81[GIH][hapmap]
rs1652184	0.93[CEU][hapmap]
rs16906211	0.81[EUR][1000 genomes]
rs16906270	1.00[EUR][1000 genomes]
rs16906271	0.99[EUR][1000 genomes]
rs16906272	1.00[EUR][1000 genomes]
rs16906285	0.95[EUR][1000 genomes]
rs16906287	0.95[EUR][1000 genomes]
rs16906288	0.95[EUR][1000 genomes]
rs16906306	0.92[EUR][1000 genomes]
rs1731490	0.94[CEU][hapmap]
rs1731491	0.94[CEU][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap]
rs1731492	0.94[CEU][hapmap]
rs17464127	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs17525182	0.81[EUR][1000 genomes]
rs1827905	0.98[EUR][1000 genomes]
rs1827906	0.98[EUR][1000 genomes]
rs1881930	0.95[EUR][1000 genomes]
rs1896906	0.95[ASN][1000 genomes]
rs2195542	0.81[ASN][1000 genomes]
rs2351471	0.83[ASN][1000 genomes]
rs2564585	0.91[ASN][1000 genomes]
rs2700023	1.00[CEU][hapmap]
rs354153	0.91[ASN][1000 genomes]
rs35751841	0.93[EUR][1000 genomes]
rs4094863	0.91[ASN][1000 genomes]
rs4536303	0.95[EUR][1000 genomes]
rs6487902	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6487906	0.95[ASN][1000 genomes]
rs7138814	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7139058	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7139191	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7139306	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7299777	0.93[EUR][1000 genomes]
rs7309482	0.95[ASN][1000 genomes]
rs7962895	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv11198	chr12:30496609-30508640	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv33254	chr12:30504075-30509365	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv20299	chr12:30504450-30506351	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv1826057	chr12:30504463-30505946	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv1830841	chr12:30504463-30505946	Enhancers Weak transcription	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	chr12:30501400-30510800	Weak transcription	Fetal Heart	heart

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