Variant report

Variant	rs10054080
Chromosome Location	chr5:60685273-60685274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10051279	1.00[AMR][1000 genomes]
rs10055806	1.00[AMR][1000 genomes]
rs10057354	1.00[AMR][1000 genomes]
rs10073626	1.00[AMR][1000 genomes]
rs10079312	1.00[AMR][1000 genomes]
rs10471270	1.00[AMR][1000 genomes]
rs10471506	1.00[AMR][1000 genomes]
rs55772332	1.00[AMR][1000 genomes]
rs59299298	1.00[AMR][1000 genomes]
rs59481395	1.00[AMR][1000 genomes]
rs60636715	1.00[AMR][1000 genomes]
rs73101794	1.00[AMR][1000 genomes]
rs73101796	1.00[AMR][1000 genomes]
rs73103607	1.00[AMR][1000 genomes]
rs7443689	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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60658800-60686600	Weak transcription	Fetal Stomach	stomach
2	chr5:60659000-60703800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:60659200-60686600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:60659400-60703600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:60659600-60697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:60661800-60686800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:60662200-60686800	Weak transcription	NHLF	lung
8	chr5:60663200-60686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:60663400-60690000	Weak transcription	Psoas Muscle	Psoas
10	chr5:60665400-60686800	Weak transcription	Aorta	Aorta
11	chr5:60667800-60689800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:60667800-60689800	Weak transcription	NHEK	skin
13	chr5:60675000-60686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:60675400-60692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:60675800-60692800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:60677400-60689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:60679200-60686800	Weak transcription	Lung	lung
18	chr5:60681000-60686800	Weak transcription	Spleen	Spleen
19	chr5:60681200-60686000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr5:60681200-60704000	Weak transcription	Brain Germinal Matrix	brain
21	chr5:60681800-60685400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:60681800-60686800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:60681800-60688000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:60682000-60690000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:60682000-60709800	Weak transcription	Left Ventricle	heart
26	chr5:60682200-60686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:60682200-60686800	Weak transcription	Gastric	stomach
28	chr5:60682200-60687000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:60682200-60687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:60682200-60690000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:60682200-60695600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:60682400-60686800	Weak transcription	Pancreas	Pancrea
33	chr5:60682400-60688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:60682400-60695800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:60682400-60697800	Weak transcription	Fetal Kidney	kidney
36	chr5:60682400-60698800	Weak transcription	Small Intestine	intestine
37	chr5:60682600-60685400	Weak transcription	Fetal Lung	lung
38	chr5:60682600-60686600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:60682600-60686800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:60682600-60686800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:60682600-60690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:60682600-60690000	Weak transcription	Right Ventricle	heart
43	chr5:60682600-60695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:60682600-60703600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:60682600-60704200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:60682600-60712400	Weak transcription	Esophagus	oesophagus
47	chr5:60682800-60686800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:60682800-60686800	Weak transcription	Fetal Brain Female	brain
49	chr5:60682800-60686800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:60682800-60686800	Weak transcription	HSMM	muscle

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