Variant report

Variant	rs12921040
Chromosome Location	chr16:72689115-72689116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72684598..72691322-chr16:72693103..72699384,8	K562	blood:

Variant related genes	Relation type
ENSG00000259768	Chromatin interaction
ENSG00000261008	Chromatin interaction

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035984	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10400973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10492826	1.00[EUR][1000 genomes]
rs11075930	1.00[AFR][1000 genomes]
rs11075931	1.00[AFR][1000 genomes]
rs11075938	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11075940	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11531326	1.00[AFR][1000 genomes]
rs12051226	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12051376	1.00[AFR][1000 genomes]
rs12051436	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12103361	1.00[EUR][1000 genomes]
rs12445485	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12595874	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12596196	1.00[AFR][1000 genomes]
rs12596421	1.00[AFR][1000 genomes]
rs12596520	1.00[AFR][1000 genomes]
rs12597202	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12597703	1.00[AFR][1000 genomes]
rs12598003	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12598048	1.00[EUR][1000 genomes]
rs12598858	1.00[EUR][1000 genomes]
rs12599442	1.00[EUR][1000 genomes]
rs12599589	1.00[AFR][1000 genomes]
rs12600298	0.83[AFR][1000 genomes]
rs12708932	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12924860	0.84[AMR][1000 genomes]
rs13332877	1.00[EUR][1000 genomes]
rs1366846	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1366847	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1429431	0.84[ASN][1000 genomes]
rs1429432	0.83[ASN][1000 genomes]
rs1429433	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1429434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1529527	1.00[AFR][1000 genomes]
rs1544964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970922	1.00[AFR][1000 genomes]
rs16970998	1.00[AFR][1000 genomes]
rs16971279	1.00[EUR][1000 genomes]
rs16971281	1.00[EUR][1000 genomes]
rs16971287	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16971288	1.00[EUR][1000 genomes]
rs16971290	1.00[EUR][1000 genomes]
rs16971292	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16971306	1.00[EUR][1000 genomes]
rs16971312	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16971314	1.00[EUR][1000 genomes]
rs16971315	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16971318	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16971321	1.00[EUR][1000 genomes]
rs16971324	1.00[AFR][1000 genomes]
rs16971325	1.00[AFR][1000 genomes]
rs1859593	1.00[EUR][1000 genomes]
rs1990096	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2040939	0.83[AFR][1000 genomes]
rs2040940	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2043022	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2059901	1.00[AFR][1000 genomes]
rs2107153	1.00[AFR][1000 genomes]
rs2115625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115626	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2163067	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2229290	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2266932	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2266934	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2266935	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2266936	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2266938	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2266939	1.00[EUR][1000 genomes]
rs2266941	1.00[AFR][1000 genomes]
rs2266942	1.00[EUR][1000 genomes]
rs2266944	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2358805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2358811	1.00[EUR][1000 genomes]
rs2358812	1.00[EUR][1000 genomes]
rs2860232	1.00[AFR][1000 genomes]
rs2884552	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2905695	1.00[AFR][1000 genomes]
rs2905696	1.00[AFR][1000 genomes]
rs2914768	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2914770	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2914772	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2914773	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2914778	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2914781	1.00[AFR][1000 genomes]
rs292913	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292914	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292915	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292916	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292917	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292918	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292919	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292920	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292921	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs292922	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292923	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292924	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292925	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292926	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292927	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292928	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292929	0.80[ASN][1000 genomes]
rs292930	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292931	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292932	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292933	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292934	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292935	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292937	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292938	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292939	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292940	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs292941	0.80[ASN][1000 genomes]
rs292942	1.00[EUR][1000 genomes]
rs292943	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs292945	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs292946	1.00[EUR][1000 genomes]
rs292947	1.00[EUR][1000 genomes]
rs2967238	1.00[AFR][1000 genomes]
rs2967239	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3812983	1.00[EUR][1000 genomes]
rs4238966	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4278755	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4788474	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4788479	1.00[EUR][1000 genomes]
rs4788637	1.00[AFR][1000 genomes]
rs4788655	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4788657	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4788663	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4788664	1.00[AFR][1000 genomes]
rs4788666	1.00[AFR][1000 genomes]
rs4788667	1.00[AFR][1000 genomes]
rs59254438	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60974482	1.00[EUR][1000 genomes]
rs6416744	1.00[AFR][1000 genomes]
rs6499575	1.00[AFR][1000 genomes]
rs6499576	1.00[AFR][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6499579	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6499581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6499591	1.00[AFR][1000 genomes]
rs714101	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs714102	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7192128	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7194567	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7199644	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7199653	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7203205	0.92[ASN][1000 genomes]
rs7203232	0.83[ASN][1000 genomes]
rs7206490	1.00[AFR][1000 genomes]
rs740176	1.00[AFR][1000 genomes]
rs8044614	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8053419	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8059268	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9302640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs982799	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9924937	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9927280	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9934215	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9935202	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9935250	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9936708	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs999210	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	esv1818026	chr16:72633305-72704680	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1059111	chr16:72647569-72751907	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No data

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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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