Variant report

Variant	rs72765547
Chromosome Location	chr5:79911547-79911548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79910821..79913397-chr5:79915125..79917648,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16877918	1.00[ASN][1000 genomes]
rs17263489	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35709834	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896641	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56212706	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151630	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765545	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72765546	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765548	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765549	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765552	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765555	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765560	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72765561	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72765566	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765582	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79902400-79916600	Weak transcription	Thymus	Thymus
2	chr5:79904000-79914400	Weak transcription	Dnd41	blood
3	chr5:79904800-79925000	Weak transcription	Primary B cells from cord blood	blood
4	chr5:79906600-79949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:79909400-79916200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:79909800-79927200	Weak transcription	Primary T cells from cord blood	blood
7	chr5:79910200-79913400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:79910600-79927000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:79910800-79911800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:79910800-79912000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:79911000-79911600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:79911000-79911600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:79911000-79911600	Enhancers	Placenta	Placenta
14	chr5:79911000-79911800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr5:79911000-79911800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:79911000-79911800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:79911000-79911800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:79911000-79911800	Enhancers	HMEC	breast
19	chr5:79911200-79911800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:79911200-79911800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:79911200-79911800	Active TSS	Brain Anterior Caudate	brain
22	chr5:79911200-79911800	Active TSS	Brain Hippocampus Middle	brain
23	chr5:79911200-79911800	Enhancers	NH-A	brain
24	chr5:79911200-79912000	Enhancers	HepG2	liver
25	chr5:79911400-79911800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:79911400-79911800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:79911400-79911800	Active TSS	Brain Cingulate Gyrus	brain
28	chr5:79911400-79911800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:79911400-79912000	Active TSS	Brain Angular Gyrus	brain
30	chr5:79911400-79912200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:79911400-79912200	Active TSS	Brain Substantia Nigra	brain

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