Variant report

Variant	rs2180931
Chromosome Location	chr6:54088467-54088468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10080252	0.81[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10155669	0.85[JPT][hapmap]
rs10456172	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10484647	0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1074639	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10948803	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150873	0.81[CEU][hapmap]
rs1150874	0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1150875	0.85[CHB][hapmap]
rs11757700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12661972	0.87[ASN][1000 genomes]
rs1340664	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1340665	0.85[JPT][hapmap]
rs1342831	0.81[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs1417389	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1417390	0.86[CEU][hapmap]
rs1417391	0.90[CHB][hapmap]
rs1575220	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16869492	0.87[ASN][1000 genomes]
rs16885091	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs17755375	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs17828437	0.83[ASN][1000 genomes]
rs1856829	0.87[ASN][1000 genomes]
rs2145758	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2185505	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275769	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2275770	0.87[ASN][1000 genomes]
rs2754813	0.80[CEU][hapmap]
rs2792638	0.85[JPT][hapmap]
rs2792644	0.80[CEU][hapmap]
rs2792646	0.81[ASN][1000 genomes]
rs34961553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3957360	0.80[CEU][hapmap]
rs4329099	0.81[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4712059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55689719	0.87[ASN][1000 genomes]
rs59132111	0.87[ASN][1000 genomes]
rs62397397	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6458988	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6458989	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6924913	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs6932559	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6934602	0.87[ASN][1000 genomes]
rs6937413	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6939568	0.81[CEU][hapmap]
rs73741487	0.87[ASN][1000 genomes]
rs7740331	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs816382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs816383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs816384	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs816385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs843827	0.80[CEU][hapmap]
rs9283919	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs9296740	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9296741	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296742	0.87[ASN][1000 genomes]
rs9296743	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9395916	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9395917	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9395918	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9464034	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs9464042	0.87[ASN][1000 genomes]
rs9464043	0.87[ASN][1000 genomes]
rs9464045	0.87[ASN][1000 genomes]
rs9464046	0.87[ASN][1000 genomes]
rs9474762	0.81[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs9474765	0.87[ASN][1000 genomes]
rs9474766	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs9474768	0.87[ASN][1000 genomes]
rs9474771	0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs9474772	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs9474773	0.87[ASN][1000 genomes]
rs9474774	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs9885975	0.85[JPT][hapmap];0.87[ASN][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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54058800-54101000	Weak transcription	Left Ventricle	heart
3	chr6:54070200-54098800	Weak transcription	Fetal Heart	heart
4	chr6:54070400-54095200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:54087600-54099200	Weak transcription	Right Ventricle	heart

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