Variant report

Variant	rs73140147
Chromosome Location	chr20:53190218-53190219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53186076..53187788-chr20:53187949..53190748,2	MCF-7	breast:
2	chr20:49346240..49348711-chr20:53189936..53192268,2	MCF-7	breast:
3	chr20:53150589..53153407-chr20:53188313..53191169,3	MCF-7	breast:
4	chr20:53181459..53183019-chr20:53187834..53190811,2	MCF-7	breast:
5	chr20:53181644..53185762-chr20:53186506..53190453,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124171	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10154005	0.83[AMR][1000 genomes]
rs10485784	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13433172	0.84[AMR][1000 genomes]
rs17327539	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2169707	0.81[EUR][1000 genomes]
rs55705559	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55960128	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56138015	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56294816	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56371656	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6014066	0.83[EUR][1000 genomes]
rs6014067	0.81[EUR][1000 genomes]
rs6014074	0.81[EUR][1000 genomes]
rs6014075	0.81[EUR][1000 genomes]
rs6014076	0.81[EUR][1000 genomes]
rs6014087	0.86[AMR][1000 genomes]
rs6014089	0.86[AMR][1000 genomes]
rs6023382	0.98[EUR][1000 genomes]
rs6023383	0.98[EUR][1000 genomes]
rs6023384	0.82[EUR][1000 genomes]
rs6023385	0.81[EUR][1000 genomes]
rs6023386	0.82[EUR][1000 genomes]
rs6023387	0.81[EUR][1000 genomes]
rs6023388	0.81[EUR][1000 genomes]
rs6023396	0.84[EUR][1000 genomes]
rs6023422	0.86[AMR][1000 genomes]
rs6091925	0.82[EUR][1000 genomes]
rs6091933	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6098093	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6098099	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6098104	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6098111	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6098116	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6098118	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6098123	0.84[AMR][1000 genomes]
rs62214427	0.94[EUR][1000 genomes]
rs62214433	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67907005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144055	0.84[AMR][1000 genomes]
rs73144063	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73144072	0.88[EUR][1000 genomes]
rs73144079	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73144086	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73146053	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73146055	0.84[AMR][1000 genomes];0.84[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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53185800-53192600	Enhancers	Fetal Brain Male	brain
2	chr20:53187000-53191400	Enhancers	Fetal Brain Female	brain
3	chr20:53188000-53194000	Weak transcription	Adipose Nuclei	Adipose
4	chr20:53188200-53194400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr20:53189200-53190400	Enhancers	Aorta	Aorta
6	chr20:53189800-53193800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:53190000-53190600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr20:53190200-53190800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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