Variant report

Variant	rs12121382
Chromosome Location	chr1:192023003-192023004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10754002	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10801089	0.84[EUR][1000 genomes]
rs10921064	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921069	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10921070	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921071	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921077	0.84[EUR][1000 genomes]
rs10921079	0.84[EUR][1000 genomes]
rs11589341	0.84[EUR][1000 genomes]
rs11799436	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12027699	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040845	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12402161	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406175	0.83[EUR][1000 genomes]
rs12738909	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739091	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744851	0.84[EUR][1000 genomes]
rs12755445	0.84[EUR][1000 genomes]
rs12760188	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1832705	0.82[ASN][1000 genomes]
rs2999581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999582	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2999585	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999586	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2999587	0.86[EUR][1000 genomes]
rs2999601	0.83[EUR][1000 genomes]
rs3012199	0.84[EUR][1000 genomes]
rs4073230	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4271194	0.83[EUR][1000 genomes]
rs4287158	0.81[EUR][1000 genomes]
rs4300202	0.84[EUR][1000 genomes]
rs4348703	0.82[EUR][1000 genomes]
rs4360506	0.83[EUR][1000 genomes]
rs4393139	0.84[EUR][1000 genomes]
rs4399135	0.84[EUR][1000 genomes]
rs4403613	0.81[EUR][1000 genomes]
rs4443869	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4506444	0.81[EUR][1000 genomes]
rs4511094	0.84[EUR][1000 genomes]
rs4578197	0.84[EUR][1000 genomes]
rs4585961	0.84[EUR][1000 genomes]
rs4620521	0.81[EUR][1000 genomes]
rs4657772	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657779	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657922	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61819040	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6655932	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6669977	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695560	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349065	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7367454	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7416831	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7418526	0.82[ASN][1000 genomes]
rs7553426	0.81[EUR][1000 genomes]
rs7553774	0.81[EUR][1000 genomes]
rs9427815	0.82[ASN][1000 genomes]
rs9427816	0.83[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	nsv1007060	chr1:191577303-192141825	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872826	chr1:191868441-192074894	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv872827	chr1:191928253-192033140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv832137	chr1:191931044-192069133	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv548645	chr1:191953675-192040576	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv548646	chr1:191955405-192040576	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv548647	chr1:191962527-192040576	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv872828	chr1:191975137-192074894	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv548648	chr1:192001465-192096277	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192021200-192023600	Enhancers	Fetal Brain Female	brain
2	chr1:192021400-192023600	Enhancers	Fetal Brain Male	brain
3	chr1:192022000-192023200	Enhancers	Colon Smooth Muscle	Colon
4	chr1:192022000-192023600	Enhancers	Fetal Lung	lung
5	chr1:192022200-192023200	Enhancers	Fetal Stomach	stomach
6	chr1:192022600-192023400	Enhancers	Adipose Nuclei	Adipose
7	chr1:192022600-192023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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