Variant report

Variant	rs72773017
Chromosome Location	chr5:80791748-80791749
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	chr5:80784791..80786688-chr5:80790192..80793142,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10514218	1.00[ASN][1000 genomes]
rs11739833	1.00[ASN][1000 genomes]
rs11739834	1.00[ASN][1000 genomes]
rs11743842	1.00[ASN][1000 genomes]
rs11743849	1.00[ASN][1000 genomes]
rs12523578	1.00[ASN][1000 genomes]
rs17231292	1.00[ASN][1000 genomes]
rs17233321	1.00[ASN][1000 genomes]
rs2972229	1.00[ASN][1000 genomes]
rs2972242	1.00[ASN][1000 genomes]
rs62365871	1.00[AFR][1000 genomes]
rs72771190	1.00[ASN][1000 genomes]
rs72771198	1.00[AFR][1000 genomes];1.00[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80766200-80800000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:80770000-80797800	Weak transcription	GM12878-XiMat	blood
3	chr5:80770000-80800200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:80770000-80801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:80770000-80801600	Weak transcription	NHLF	lung
6	chr5:80770000-80803000	Weak transcription	Fetal Kidney	kidney
7	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
9	chr5:80770200-80794800	Weak transcription	Fetal Brain Female	brain
10	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:80770400-80793600	Weak transcription	Brain Germinal Matrix	brain
12	chr5:80770400-80801600	Weak transcription	Ovary	ovary
13	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
14	chr5:80771200-80799600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:80778400-80797800	Weak transcription	Thymus	Thymus
16	chr5:80778800-80797800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:80778800-80797800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:80778800-80797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:80778800-80800400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:80779000-80794800	Weak transcription	Fetal Lung	lung
21	chr5:80779000-80798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:80779000-80809600	Weak transcription	Primary T cells from cord blood	blood
23	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
24	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:80779200-80801800	Weak transcription	Fetal Heart	heart
26	chr5:80780000-80793800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:80782800-80801000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:80783000-80801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:80785800-80797800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:80787400-80797800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:80788400-80801600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:80788800-80799600	Weak transcription	Fetal Brain Male	brain
33	chr5:80789800-80797600	Weak transcription	Fetal Thymus	thymus
34	chr5:80790800-80797600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:80791000-80797600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:80791400-80801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:80791600-80792600	Weak transcription	Dnd41	blood

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