Variant report

Variant	rs73768057
Chromosome Location	chr5:80579270-80579271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28482890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28690592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59230067	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59628507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60394857	1.00[EUR][1000 genomes]
rs61001312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61051764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768049	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768067	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7732077	1.00[EUR][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80565200-80580400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:80566200-80587800	Weak transcription	Ovary	ovary
3	chr5:80566400-80581400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:80566400-80587600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:80566800-80587600	Weak transcription	Right Ventricle	heart
6	chr5:80568000-80585600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:80570400-80587200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:80571600-80583000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:80571800-80579600	Weak transcription	Fetal Heart	heart
10	chr5:80572000-80595200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:80573800-80587400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:80574600-80585600	Weak transcription	Dnd41	blood
13	chr5:80577200-80586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:80578000-80579800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:80578000-80586800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:80578200-80582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:80578200-80585200	Weak transcription	Fetal Intestine Large	intestine
18	chr5:80578200-80585600	Weak transcription	Left Ventricle	heart
19	chr5:80578800-80586600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:80578800-80595200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:80579000-80580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:80579000-80586800	Weak transcription	Psoas Muscle	Psoas
23	chr5:80579200-80582600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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