Variant report

Variant	rs73794744
Chromosome Location	chr5:146825278-146825279
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]
rs73794759	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:66 , 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	chr5:146812200-146825600	Weak transcription	Placenta	Placenta
3	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
4	chr5:146813200-146828200	Weak transcription	NHLF	lung
5	chr5:146814200-146826400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:146816800-146826200	Weak transcription	Lung	lung
7	chr5:146817200-146825600	Weak transcription	Right Atrium	heart
8	chr5:146817200-146826200	Weak transcription	Psoas Muscle	Psoas
9	chr5:146817200-146829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:146817200-146830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
12	chr5:146819200-146825400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:146819200-146825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:146819200-146825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:146819200-146826000	Weak transcription	NH-A	brain
16	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
18	chr5:146819400-146826200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:146820600-146825600	Weak transcription	Brain Substantia Nigra	brain
20	chr5:146822000-146826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:146822000-146826200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:146822200-146825600	Weak transcription	Adipose Nuclei	Adipose
23	chr5:146822200-146828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:146822400-146825800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:146823000-146825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:146823200-146826200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:146823200-146827000	Enhancers	Rectal Smooth Muscle	rectum
28	chr5:146823200-146831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:146823400-146825800	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:146823400-146827000	Enhancers	Colon Smooth Muscle	Colon
31	chr5:146823600-146825800	Weak transcription	Left Ventricle	heart
32	chr5:146823600-146826000	Weak transcription	Small Intestine	intestine
33	chr5:146823600-146826400	Enhancers	Fetal Brain Male	brain
34	chr5:146823600-146827000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:146823600-146827000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:146823600-146828600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:146824200-146827000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
38	chr5:146824400-146825400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:146824400-146825600	Enhancers	Fetal Stomach	stomach
40	chr5:146824400-146826000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:146824400-146826000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:146824400-146826200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:146824400-146826800	Enhancers	Brain Hippocampus Middle	brain
44	chr5:146824600-146825600	Enhancers	Aorta	Aorta
45	chr5:146824600-146825600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:146824600-146826200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:146824600-146826400	Enhancers	Brain Anterior Caudate	brain
48	chr5:146824600-146826400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
49	chr5:146824600-146826600	Genic enhancers	H9 Cell Line	embryonic stem cell
50	chr5:146824600-146826600	Enhancers	Fetal Muscle Leg	muscle

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