Variant report

Variant	rs57782659
Chromosome Location	chr5:146821494-146821495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12657083	0.89[AFR][1000 genomes]
rs12657176	0.87[AFR][1000 genomes]
rs17106743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17106761	0.89[AFR][1000 genomes]
rs17106765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58633172	0.90[AFR][1000 genomes]
rs73794725	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794726	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716469	0.97[AFR][1000 genomes];1.00[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	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
2	esv3367219	chr5:146821493-146821747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 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	chr5:146810000-146823400	Weak transcription	Small Intestine	intestine
3	chr5:146810800-146822600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:146812200-146825600	Weak transcription	Placenta	Placenta
5	chr5:146812400-146824400	Weak transcription	Fetal Stomach	stomach
6	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
7	chr5:146813200-146828200	Weak transcription	NHLF	lung
8	chr5:146813600-146822600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:146814200-146826400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:146815200-146822000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:146816800-146823400	Weak transcription	Left Ventricle	heart
12	chr5:146816800-146826200	Weak transcription	Lung	lung
13	chr5:146817200-146824600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:146817200-146825600	Weak transcription	Right Atrium	heart
15	chr5:146817200-146826200	Weak transcription	Psoas Muscle	Psoas
16	chr5:146817200-146829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:146817200-146830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
19	chr5:146817400-146824600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:146817400-146824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:146818200-146824600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:146818600-146822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:146819000-146822000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:146819000-146825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:146819200-146821800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:146819200-146821800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:146819200-146822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:146819200-146822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:146819200-146823400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:146819200-146824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:146819200-146824600	Weak transcription	Aorta	Aorta
32	chr5:146819200-146825400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:146819200-146825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:146819200-146825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:146819200-146826000	Weak transcription	NH-A	brain
36	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
38	chr5:146819400-146821600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:146819400-146821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:146819400-146823400	Weak transcription	Fetal Brain Female	brain
41	chr5:146819400-146824200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:146819400-146824800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:146819400-146825000	Weak transcription	NHDF-Ad	bronchial
44	chr5:146819400-146826200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:146820000-146822200	Enhancers	Brain Germinal Matrix	brain
46	chr5:146820200-146824400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:146820400-146822000	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:146820400-146822200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:146820400-146823200	Weak transcription	Fetal Brain Male	brain
50	chr5:146820400-146823600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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