Variant report

Variant	rs6014075
Chromosome Location	chr20:53210517-53210518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:53208755..53210472-chr20:53210475..53212047,2	MCF-7	breast:
2	chr20:53156247..53159030-chr20:53207905..53210623,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10485784	0.81[EUR][1000 genomes]
rs17327539	0.81[EUR][1000 genomes]
rs2169707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663252	0.84[EUR][1000 genomes]
rs55960128	0.81[EUR][1000 genomes]
rs56371656	0.82[EUR][1000 genomes]
rs58298733	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60030360	0.83[AMR][1000 genomes]
rs6014066	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6014067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6014073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6014074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6014076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6014077	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6014078	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6014080	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6023382	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6023383	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6023384	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023386	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023394	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6023397	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6023398	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6023401	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6023403	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6091925	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6098099	0.84[EUR][1000 genomes]
rs6098103	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6098105	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67907005	0.81[EUR][1000 genomes]
rs7269966	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73140147	0.81[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53202000-53211800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr20:53202200-53230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:53204600-53240600	Weak transcription	Left Ventricle	heart
4	chr20:53206400-53226600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr20:53206600-53214800	Weak transcription	Aorta	Aorta
6	chr20:53206600-53216600	Weak transcription	Fetal Brain Female	brain
7	chr20:53207200-53217000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr20:53208600-53213800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:53208800-53214400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr20:53209000-53215600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:53209000-53216600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:53209800-53216200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr20:53210200-53210800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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