Variant report

Variant	rs12661972
Chromosome Location	chr6:54099599-54099600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10080252	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155669	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10456172	0.88[ASN][1000 genomes]
rs10484647	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10484648	0.86[EUR][1000 genomes]
rs10484649	0.86[EUR][1000 genomes]
rs1074639	0.88[ASN][1000 genomes]
rs1150874	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1150880	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1150884	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11757700	0.88[ASN][1000 genomes]
rs11963558	0.86[EUR][1000 genomes]
rs11965480	0.83[EUR][1000 genomes]
rs11966090	0.86[EUR][1000 genomes]
rs11966747	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11969471	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11969948	0.86[EUR][1000 genomes]
rs12177981	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1299293	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1340664	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1340665	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1340667	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1342831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417389	0.82[ASN][1000 genomes]
rs1575220	0.86[ASN][1000 genomes]
rs16869492	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884761	0.86[EUR][1000 genomes]
rs16884835	0.86[EUR][1000 genomes]
rs16884943	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16884946	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16885091	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755305	0.86[EUR][1000 genomes]
rs17755375	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17828437	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1856829	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935839	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2145758	0.88[ASN][1000 genomes]
rs2145761	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180931	0.87[ASN][1000 genomes]
rs2185505	0.87[ASN][1000 genomes]
rs2275769	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275770	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754794	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2754795	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2754798	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2792630	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2792631	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2792634	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2792635	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2792636	0.81[EUR][1000 genomes]
rs2792638	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792646	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34961553	0.88[ASN][1000 genomes]
rs41530746	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4329099	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712059	0.88[ASN][1000 genomes]
rs4715443	0.86[EUR][1000 genomes]
rs55689719	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760696	0.86[EUR][1000 genomes]
rs59132111	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458988	0.88[ASN][1000 genomes]
rs6458989	0.88[ASN][1000 genomes]
rs6905950	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6924913	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932559	0.87[ASN][1000 genomes]
rs6934602	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934690	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6937413	0.85[ASN][1000 genomes]
rs73741487	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740331	0.87[ASN][1000 genomes]
rs7751241	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs816382	0.88[ASN][1000 genomes]
rs816383	0.88[ASN][1000 genomes]
rs816384	0.88[ASN][1000 genomes]
rs816385	0.88[ASN][1000 genomes]
rs9283919	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296741	0.87[ASN][1000 genomes]
rs9296742	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296743	0.87[ASN][1000 genomes]
rs9395916	0.88[ASN][1000 genomes]
rs9395918	0.83[ASN][1000 genomes]
rs9464027	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464028	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464030	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464034	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9464042	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464043	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464045	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464046	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464047	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9474748	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474754	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474755	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474762	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474765	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474766	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474768	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474771	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474772	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474773	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474774	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474775	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9885975	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942457	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54058800-54101000	Weak transcription	Left Ventricle	heart
2	chr6:54092800-54101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:54095800-54100600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:54097200-54103400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:54098800-54100400	Enhancers	Fetal Heart	heart
6	chr6:54099200-54099600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:54099200-54099600	Enhancers	Right Ventricle	heart
8	chr6:54099200-54099800	Enhancers	Fetal Intestine Small	intestine
9	chr6:54099400-54099600	Genic enhancers	Psoas Muscle	Psoas
10	chr6:54099400-54100000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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