Variant report

Variant	rs6098072
Chromosome Location	chr20:53167115-53167116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr20:53166955-53168040	SK-N-SH	brain:	n/a	chr20:53167559-53167570
2	GATA3	chr20:53166844-53168199	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:53165477..53168147-chr20:53202894..53205651,2	MCF-7	breast:
2	chr17:77787431..77788987-chr20:53166127..53168604,2	MCF-7	breast:
3	chr2:141422971..141423545-chr20:53166808..53167673,2	MCF-7	breast:
4	chr20:53158565..53163438-chr20:53165298..53171299,6	MCF-7	breast:

Variant related genes	Relation type
DOK5	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs28506968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523944	1.00[AMR][1000 genomes]
rs28646056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667935	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55916284	1.00[AMR][1000 genomes]
rs56003098	0.83[AMR][1000 genomes]
rs56150515	0.83[AMR][1000 genomes]
rs56158072	1.00[AMR][1000 genomes]
rs57628263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57722500	1.00[AMR][1000 genomes]
rs59393556	1.00[AMR][1000 genomes]
rs6091910	1.00[AMR][1000 genomes]
rs6091911	1.00[AMR][1000 genomes]
rs6091915	1.00[AMR][1000 genomes]
rs6091916	1.00[AMR][1000 genomes]
rs6091917	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6091918	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6091920	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098037	1.00[AMR][1000 genomes]
rs6098038	1.00[AMR][1000 genomes]
rs6098040	0.83[AMR][1000 genomes]
rs6098048	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6098049	1.00[AMR][1000 genomes]
rs6098050	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6098051	0.83[AMR][1000 genomes]
rs6098052	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6098053	1.00[AMR][1000 genomes]
rs6098054	1.00[AMR][1000 genomes]
rs6098055	1.00[AMR][1000 genomes]
rs6098056	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs6098057	1.00[AMR][1000 genomes]
rs6098058	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6098059	1.00[AMR][1000 genomes]
rs6098060	1.00[AMR][1000 genomes]
rs6098069	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098071	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098075	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098076	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098077	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098079	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098081	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6098082	1.00[AFR][1000 genomes]
rs6098083	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7262672	1.00[AMR][1000 genomes]
rs7265441	1.00[AMR][1000 genomes]
rs7265504	1.00[AMR][1000 genomes]
rs7266935	1.00[AMR][1000 genomes]
rs7267758	1.00[AMR][1000 genomes]
rs7270950	0.83[AMR][1000 genomes]
rs7360669	1.00[AMR][1000 genomes]
rs7362510	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73911920	1.00[AMR][1000 genomes]
rs73911922	1.00[AMR][1000 genomes]
rs73911933	1.00[AMR][1000 genomes]
rs73911934	1.00[AMR][1000 genomes]
rs73911936	1.00[AMR][1000 genomes]
rs73911939	1.00[AMR][1000 genomes]
rs73911941	1.00[AMR][1000 genomes]
rs73911943	1.00[AMR][1000 genomes]
rs73911954	1.00[AMR][1000 genomes]
rs73911956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73911957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8116290	1.00[AMR][1000 genomes]
rs8116343	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53162200-53172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr20:53162400-53171600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr20:53164000-53167800	Enhancers	Fetal Brain Female	brain
4	chr20:53165200-53168400	Enhancers	Fetal Brain Male	brain
5	chr20:53165400-53167400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:53165600-53167200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:53165800-53167800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:53166000-53167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr20:53166000-53167800	Enhancers	Osteobl	bone
10	chr20:53166400-53177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:53166800-53173600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr20:53166800-53176800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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