Variant report

Variant	rs72773022
Chromosome Location	chr5:80807759-80807760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10045115	0.83[AMR][1000 genomes]
rs11950035	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13355366	0.83[AMR][1000 genomes]
rs6865376	0.83[AMR][1000 genomes]
rs72773025	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72773026	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
3	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
5	chr5:80779000-80809600	Weak transcription	Primary T cells from cord blood	blood
6	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
7	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:80797000-80834000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:80798200-80818000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:80798400-80820000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:80798400-80821400	Weak transcription	Thymus	Thymus
12	chr5:80798600-80826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:80802000-80819600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:80802600-80812200	Weak transcription	Aorta	Aorta
15	chr5:80802600-80812200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:80802600-80812200	Weak transcription	HSMM	muscle
17	chr5:80802600-80812200	Weak transcription	NHDF-Ad	bronchial
18	chr5:80802600-80819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:80802800-80812200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:80803200-80834400	Weak transcription	Fetal Kidney	kidney
21	chr5:80803200-80835200	Weak transcription	GM12878-XiMat	blood
22	chr5:80803600-80812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
24	chr5:80804200-80811800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:80805000-80808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:80805000-80808600	Strong transcription	Fetal Thymus	thymus
27	chr5:80806400-80809400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:80806800-80808200	Genic enhancers	Dnd41	blood
29	chr5:80807000-80808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:80807000-80809800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:80807600-80809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:80807600-80813400	Weak transcription	Brain Germinal Matrix	brain

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