Variant report

Variant	rs12830545
Chromosome Location	chr12:21367481-21367482
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	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs1002552	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444413	1.00[ASN][1000 genomes]
rs10841761	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841766	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841767	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841768	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841784	1.00[ASN][1000 genomes]
rs10841789	1.00[ASN][1000 genomes]
rs10841795	1.00[ASN][1000 genomes]
rs11045699	1.00[ASN][1000 genomes]
rs11045701	1.00[ASN][1000 genomes]
rs11045702	1.00[ASN][1000 genomes]
rs11045703	1.00[ASN][1000 genomes]
rs11045704	1.00[ASN][1000 genomes]
rs11045711	1.00[ASN][1000 genomes]
rs11045715	1.00[ASN][1000 genomes]
rs11045717	1.00[ASN][1000 genomes]
rs11045729	1.00[ASN][1000 genomes]
rs11045736	1.00[ASN][1000 genomes]
rs11045737	1.00[ASN][1000 genomes]
rs11045771	1.00[ASN][1000 genomes]
rs11045772	1.00[ASN][1000 genomes]
rs11045773	1.00[ASN][1000 genomes]
rs11045780	1.00[ASN][1000 genomes]
rs11045781	1.00[ASN][1000 genomes]
rs11045783	1.00[ASN][1000 genomes]
rs11045785	1.00[ASN][1000 genomes]
rs11045786	1.00[ASN][1000 genomes]
rs11045787	1.00[ASN][1000 genomes]
rs11045796	1.00[ASN][1000 genomes]
rs11045797	1.00[ASN][1000 genomes]
rs11045798	1.00[ASN][1000 genomes]
rs11045799	1.00[ASN][1000 genomes]
rs11045801	1.00[ASN][1000 genomes]
rs11045803	1.00[ASN][1000 genomes]
rs11045805	1.00[ASN][1000 genomes]
rs11045806	1.00[ASN][1000 genomes]
rs11045807	1.00[ASN][1000 genomes]
rs11045813	1.00[ASN][1000 genomes]
rs11045816	1.00[ASN][1000 genomes]
rs11045818	1.00[ASN][1000 genomes]
rs11045819	1.00[ASN][1000 genomes]
rs11045820	1.00[ASN][1000 genomes]
rs11045821	1.00[ASN][1000 genomes]
rs11045823	1.00[ASN][1000 genomes]
rs11045824	1.00[ASN][1000 genomes]
rs11045825	1.00[ASN][1000 genomes]
rs11045831	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045832	1.00[ASN][1000 genomes]
rs11045843	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11045856	1.00[ASN][1000 genomes]
rs11045858	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045862	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045863	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045870	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045871	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045872	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045873	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045874	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045884	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045887	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045891	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045892	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045893	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045897	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045916	1.00[ASN][1000 genomes]
rs11045917	1.00[ASN][1000 genomes]
rs11045918	1.00[ASN][1000 genomes]
rs11045928	1.00[ASN][1000 genomes]
rs11045930	1.00[ASN][1000 genomes]
rs11045942	1.00[ASN][1000 genomes]
rs11045946	1.00[ASN][1000 genomes]
rs11045952	1.00[ASN][1000 genomes]
rs11045953	1.00[ASN][1000 genomes]
rs11045956	1.00[ASN][1000 genomes]
rs11045957	1.00[ASN][1000 genomes]
rs11045958	1.00[ASN][1000 genomes]
rs11045960	1.00[ASN][1000 genomes]
rs11045961	1.00[ASN][1000 genomes]
rs11045972	1.00[ASN][1000 genomes]
rs11045978	1.00[ASN][1000 genomes]
rs11045981	1.00[ASN][1000 genomes]
rs11494720	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11513224	1.00[ASN][1000 genomes]
rs11513226	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11513228	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11513411	1.00[ASN][1000 genomes]
rs11519266	1.00[ASN][1000 genomes]
rs11522782	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307908	1.00[ASN][1000 genomes]
rs12311451	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366994	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12367829	1.00[ASN][1000 genomes]
rs12368356	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368481	1.00[ASN][1000 genomes]
rs12370842	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371160	1.00[ASN][1000 genomes]
rs12371390	1.00[ASN][1000 genomes]
rs12371570	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371691	1.00[ASN][1000 genomes]
rs12372124	1.00[ASN][1000 genomes]
rs12372260	1.00[ASN][1000 genomes]
rs12372374	1.00[ASN][1000 genomes]
rs12811381	1.00[ASN][1000 genomes]
rs12812279	1.00[ASN][1000 genomes]
rs12814646	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815795	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819994	1.00[ASN][1000 genomes]
rs12820529	1.00[ASN][1000 genomes]
rs12821068	1.00[ASN][1000 genomes]
rs12821228	1.00[ASN][1000 genomes]
rs12821721	1.00[ASN][1000 genomes]
rs12827231	1.00[ASN][1000 genomes]
rs12829704	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564367	1.00[ASN][1000 genomes]
rs1564369	1.00[ASN][1000 genomes]
rs17328763	1.00[ASN][1000 genomes]
rs17329885	1.00[ASN][1000 genomes]
rs1910166	1.00[ASN][1000 genomes]
rs2169969	1.00[ASN][1000 genomes]
rs2199684	1.00[ASN][1000 genomes]
rs2199686	1.00[ASN][1000 genomes]
rs2417972	1.00[ASN][1000 genomes]
rs28802276	1.00[ASN][1000 genomes]
rs2900480	1.00[ASN][1000 genomes]
rs34022980	1.00[ASN][1000 genomes]
rs34111581	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211424	1.00[ASN][1000 genomes]
rs34249976	1.00[ASN][1000 genomes]
rs34632551	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712739	1.00[ASN][1000 genomes]
rs34888642	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35157563	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35236625	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35406304	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35462387	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35642680	1.00[ASN][1000 genomes]
rs35736956	1.00[ASN][1000 genomes]
rs35901590	1.00[ASN][1000 genomes]
rs35928112	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794320	1.00[ASN][1000 genomes]
rs4337089	1.00[ASN][1000 genomes]
rs4381410	1.00[ASN][1000 genomes]
rs4442593	1.00[ASN][1000 genomes]
rs55708035	1.00[ASN][1000 genomes]
rs55720923	1.00[ASN][1000 genomes]
rs55773124	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55820200	1.00[ASN][1000 genomes]
rs56164184	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487215	1.00[ASN][1000 genomes]
rs66777941	1.00[ASN][1000 genomes]
rs7137060	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446755	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446757	1.00[ASN][1000 genomes]
rs71446760	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446761	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446762	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446763	1.00[ASN][1000 genomes]
rs7485550	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957274	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960384	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960688	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962263	1.00[ASN][1000 genomes]
rs7962919	1.00[ASN][1000 genomes]
rs7965059	1.00[ASN][1000 genomes]
rs7967303	1.00[ASN][1000 genomes]
rs7967403	1.00[ASN][1000 genomes]
rs7977197	1.00[ASN][1000 genomes]
rs7978322	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898872	chr12:21000586-21413632	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1048648	chr12:21007732-21410089	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv949142	chr12:21008498-21382619	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948700	chr12:21008498-21422492	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv531958	chr12:21008499-21377322	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1047113	chr12:21008519-21402544	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv541411	chr12:21008519-21402544	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv515735	chr12:21010048-21420712	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv933139	chr12:21011077-21404166	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv557710	chr12:21011480-21404832	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv933316	chr12:21017576-21404166	ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv469159	chr12:21124371-21404832	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv557717	chr12:21124371-21404832	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1052587	chr12:21149131-21420712	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1050396	chr12:21152478-21420712	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1054132	chr12:21165101-21402544	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv541415	chr12:21165101-21402544	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv933284	chr12:21171894-21404166	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv3439156	chr12:21207396-21370189	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1041711	chr12:21236384-21402544	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv898883	chr12:21294293-21450917	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1795634	chr12:21330988-21393018	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv557728	chr12:21341096-21382342	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1045025	chr12:21341096-21384397	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv557729	chr12:21352541-21378021	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv898885	chr12:21352541-21416413	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv898886	chr12:21354494-21450250	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv898887	chr12:21355537-21416413	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv898888	chr12:21355537-21426087	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1044200	chr12:21357815-21410089	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21361800-21367800	Weak transcription	Liver	Liver
2	chr12:21367400-21368600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:21367400-21368600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr12:21367400-21368600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:21367400-21369000	Active TSS	HUES6 Cell Line	embryonic stem cell

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