Variant report

Variant	rs13190040
Chromosome Location	chr5:112481809-112481810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10463646	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519334	0.83[EUR][1000 genomes]
rs13168126	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13183116	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1562016	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2044238	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044239	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2165930	0.86[EUR][1000 genomes]
rs2416303	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2416305	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2416306	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35334140	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4634343	0.85[EUR][1000 genomes]
rs4705789	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4705794	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705795	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4705796	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705797	0.87[EUR][1000 genomes]
rs7707546	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7720549	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7720866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7726679	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs935159	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3428228	chr5:112481516-112482881	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
4	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112477400-112482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
10	chr5:112477400-112482600	Weak transcription	NHLF	lung
11	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
13	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
15	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:112477800-112482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:112478000-112482400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:112478000-112483000	Weak transcription	Left Ventricle	heart
22	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
23	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:112478200-112482400	Weak transcription	HSMMtube	muscle
25	chr5:112478400-112482400	Weak transcription	NHDF-Ad	bronchial
26	chr5:112478400-112483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:112478600-112482000	Weak transcription	Osteobl	bone
28	chr5:112478600-112483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:112478800-112482000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:112478800-112483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:112479200-112485200	Weak transcription	Liver	Liver
32	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
33	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:112479600-112482000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:112479800-112485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
37	chr5:112480600-112482000	Enhancers	HMEC	breast
38	chr5:112480600-112483600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:112480800-112483200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:112481000-112483000	Weak transcription	Psoas Muscle	Psoas
41	chr5:112481200-112482000	Flanking Active TSS	NHEK	skin
42	chr5:112481400-112482400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112481600-112482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:112481600-112483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:112481600-112483600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:112481600-112483800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:112481600-112485400	Weak transcription	Ovary	ovary
49	chr5:112481800-112486400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:112481800-112487800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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