Variant report

Variant	rs12522971
Chromosome Location	chr5:29788463-29788464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29787147..29790106-chr5:29792184..29794445,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10055152	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10520952	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10805537	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10940816	0.89[ASN][1000 genomes]
rs10940817	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10940824	0.85[ASN][1000 genomes]
rs11737948	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11745229	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11745291	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12513511	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12516688	0.95[ASN][1000 genomes]
rs12517227	0.95[ASN][1000 genomes]
rs12517273	0.95[ASN][1000 genomes]
rs12518960	0.85[ASN][1000 genomes]
rs12520342	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12521052	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12651890	0.95[ASN][1000 genomes]
rs12655040	0.85[ASN][1000 genomes]
rs12656086	0.95[ASN][1000 genomes]
rs1350222	0.95[ASN][1000 genomes]
rs1379053	0.81[ASN][1000 genomes]
rs1379054	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1456641	0.95[ASN][1000 genomes]
rs1456642	0.95[ASN][1000 genomes]
rs1456643	0.95[ASN][1000 genomes]
rs1463413	0.84[ASN][1000 genomes]
rs1463414	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563510	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16899381	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16899407	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16899419	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899422	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1993437	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2124716	0.85[ASN][1000 genomes]
rs2219325	0.95[ASN][1000 genomes]
rs2330137	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2330138	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2330139	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2925526	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4343854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4621572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58306893	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58802063	0.85[ASN][1000 genomes]
rs59897238	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61330469	0.91[ASN][1000 genomes]
rs61531233	0.92[ASN][1000 genomes]
rs62348668	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62348702	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62348703	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62348704	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62348709	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66702955	0.95[ASN][1000 genomes]
rs67126601	0.95[ASN][1000 genomes]
rs6877378	0.95[ASN][1000 genomes]
rs6888568	0.87[EUR][1000 genomes]
rs6888901	0.86[ASN][1000 genomes]
rs6893901	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72743255	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72743256	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72743261	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72743275	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292341	0.82[AMR][1000 genomes];0.83[EUR][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	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3385368	chr5:29548608-29910057	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830244	chr5:29630122-29790611	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1029329	chr5:29778216-29805002	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1026460	chr5:29785485-29814309	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv1034228	chr5:29785485-29815868	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1018046	chr5:29785776-29818396	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv1019541	chr5:29786932-29814309	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv1016811	chr5:29786932-29824596	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29788400-29789000	Enhancers	HepG2	liver

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