Variant report

Variant	rs73794759
Chromosome Location	chr5:146828225-146828226
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:17)

rs_ID	r²[population]
rs56095645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56171142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56269143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58995894	0.86[AFR][1000 genomes]
rs60658825	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794722	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794723	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794731	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794733	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794737	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794739	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794762	1.00[AFR][1000 genomes];1.00[AMR][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	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
3	chr5:146817200-146829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:146817200-146830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
6	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
8	chr5:146822200-146828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:146823200-146831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:146823600-146828600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:146824600-146830800	Enhancers	Ovary	ovary
12	chr5:146825000-146828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:146825800-146828400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:146826000-146828800	Weak transcription	Placenta	Placenta
15	chr5:146826400-146828400	Weak transcription	HSMMtube	muscle
16	chr5:146826600-146828600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:146826600-146828600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:146826600-146829000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:146826600-146829200	Enhancers	Fetal Brain Male	brain
20	chr5:146826600-146830000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:146826600-146830800	Weak transcription	Aorta	Aorta
22	chr5:146826600-146830800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:146826600-146830800	Weak transcription	Left Ventricle	heart
24	chr5:146826600-146830800	Weak transcription	Right Atrium	heart
25	chr5:146826600-146830800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:146826600-146831000	Weak transcription	Adipose Nuclei	Adipose
27	chr5:146826600-146831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:146826600-146831800	Weak transcription	Lung	lung
29	chr5:146826600-146832000	Weak transcription	Fetal Heart	heart
30	chr5:146826600-146832000	Weak transcription	Psoas Muscle	Psoas
31	chr5:146826800-146828400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:146826800-146830800	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:146827000-146828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:146827000-146829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:146827000-146829800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:146827000-146831600	Weak transcription	Brain Substantia Nigra	brain
37	chr5:146827200-146828400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:146827200-146829200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:146827400-146830000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:146827600-146828600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:146827600-146828800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:146827600-146829200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:146827800-146830800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:146828000-146830200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr5:146828000-146830800	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:146828000-146831400	Enhancers	Colon Smooth Muscle	Colon
47	chr5:146828200-146828400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:146828200-146828400	Enhancers	Brain Cingulate Gyrus	brain
49	chr5:146828200-146828400	Flanking Active TSS	Fetal Brain Female	brain
50	chr5:146828200-146828800	Enhancers	H1 Cell Line	embryonic stem cell

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