Variant report

Variant	rs73247719
Chromosome Location	chr20:11410950-11410951
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	chr20:11408827..11411317-chr20:11413467..11415014,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12480062	0.83[AMR][1000 genomes]
rs12480222	0.83[AMR][1000 genomes]
rs12481138	0.83[AMR][1000 genomes]
rs12481718	0.83[AMR][1000 genomes]
rs59106237	0.83[AMR][1000 genomes]
rs6033133	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6033140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6040639	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6040662	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60485829	0.83[AMR][1000 genomes]
rs73245683	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73245698	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247707	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247709	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247714	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247729	0.83[AMR][1000 genomes]
rs73247735	0.83[AMR][1000 genomes]
rs73247736	0.83[AMR][1000 genomes]
rs73247739	0.83[AMR][1000 genomes]
rs73247748	0.83[AMR][1000 genomes]
rs73247759	0.83[AMR][1000 genomes]
rs73247773	0.83[AMR][1000 genomes]
rs73250009	0.83[AMR][1000 genomes]
rs73250010	0.83[AMR][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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11408000-11415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:11409800-11411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr20:11409800-11411200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:11409800-11411400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:11409800-11411400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:11410000-11411000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr20:11410000-11411000	Enhancers	HSMMtube	muscle
8	chr20:11410200-11411600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:11410200-11413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:11410200-11413000	Weak transcription	HMEC	breast
11	chr20:11410200-11413000	Weak transcription	NHEK	skin
12	chr20:11410400-11411200	Enhancers	Brain Germinal Matrix	brain
13	chr20:11410400-11413000	Weak transcription	A549	lung
14	chr20:11410600-11411400	Enhancers	Fetal Muscle Leg	muscle
15	chr20:11410600-11411800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:11410600-11413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:11410800-11411000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:11410800-11411400	Enhancers	Psoas Muscle	Psoas
19	chr20:11410800-11411600	Enhancers	Fetal Kidney	kidney
20	chr20:11410800-11412600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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