Variant report

Variant	rs12195488
Chromosome Location	chr6:54104377-54104378
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10456171	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150873	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12201129	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12201557	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12206177	0.92[EUR][1000 genomes]
rs12212572	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12214345	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12215211	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1298143	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1417390	0.95[EUR][1000 genomes]
rs2066205	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2754786	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2754812	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2754813	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2792644	0.84[EUR][1000 genomes]
rs2792656	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3957360	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6905414	0.83[EUR][1000 genomes]
rs6937514	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6939568	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7768286	0.80[AFR][1000 genomes]
rs843827	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9349700	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9370276	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9382311	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9395920	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9464035	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv1020961	chr6:54101801-54133709	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1020329	chr6:54103966-54129147	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54101000-54119800	Weak transcription	Right Ventricle	heart
2	chr6:54101400-54120800	Weak transcription	Psoas Muscle	Psoas
3	chr6:54102200-54119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:54102600-54108400	Weak transcription	Left Ventricle	heart
5	chr6:54104000-54107000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:54104000-54108600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:54104000-54108600	Weak transcription	Fetal Heart	heart
8	chr6:54104000-54108800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:54104000-54119800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:54104200-54110200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:54104200-54120800	Weak transcription	Fetal Muscle Leg	muscle

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