Variant report

Variant	rs6872753
Chromosome Location	chr5:80800781-80800782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56171371	0.85[AMR][1000 genomes]
rs57455684	0.85[AMR][1000 genomes]
rs57679797	0.85[AMR][1000 genomes]
rs57695076	0.85[AMR][1000 genomes]
rs60796217	1.00[AMR][1000 genomes]
rs60863858	0.85[AMR][1000 genomes]
rs6452421	1.00[AMR][1000 genomes]
rs6897697	1.00[AMR][1000 genomes]
rs73766271	1.00[AMR][1000 genomes]
rs73766289	1.00[AMR][1000 genomes]
rs73766290	1.00[AMR][1000 genomes]
rs73766295	0.85[AMR][1000 genomes]
rs73766298	0.85[AMR][1000 genomes]
rs73766300	1.00[AMR][1000 genomes]
rs73768105	0.85[AMR][1000 genomes]
rs7728066	0.85[AMR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80770000-80801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:80770000-80801600	Weak transcription	NHLF	lung
3	chr5:80770000-80803000	Weak transcription	Fetal Kidney	kidney
4	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
6	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:80770400-80801600	Weak transcription	Ovary	ovary
8	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
9	chr5:80779000-80809600	Weak transcription	Primary T cells from cord blood	blood
10	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
11	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:80779200-80801800	Weak transcription	Fetal Heart	heart
13	chr5:80782800-80801000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:80783000-80801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:80788400-80801600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:80791400-80801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:80793200-80801600	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:80795400-80801800	Weak transcription	Fetal Lung	lung
19	chr5:80797000-80834000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:80797400-80801600	Weak transcription	Adipose Nuclei	Adipose
21	chr5:80797800-80802000	Strong transcription	Dnd41	blood
22	chr5:80798200-80818000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:80798400-80801400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:80798400-80801600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:80798400-80802400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:80798400-80820000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:80798400-80821400	Weak transcription	Thymus	Thymus
28	chr5:80798600-80826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:80799400-80802400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:80799600-80802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:80800200-80801000	Enhancers	Brain Anterior Caudate	brain
32	chr5:80800200-80802600	Enhancers	Brain Substantia Nigra	brain
33	chr5:80800400-80800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:80800400-80801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:80800600-80805000	Weak transcription	Fetal Thymus	thymus

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