Variant report

Variant	rs4145099
Chromosome Location	chr5:106929842-106929843
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10045552	0.84[CEU][hapmap]
rs10061771	0.86[GIH][hapmap]
rs103840	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs12514540	0.83[ASN][1000 genomes]
rs12654557	0.88[EUR][1000 genomes]
rs12656108	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12656960	0.83[ASN][1000 genomes]
rs1990993	0.84[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2406374	0.88[EUR][1000 genomes]
rs34644687	0.88[EUR][1000 genomes]
rs3844311	0.84[CEU][hapmap]
rs3864269	0.84[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs591470	0.86[CHB][hapmap]
rs597083	0.86[GIH][hapmap]
rs607976	0.86[CHB][hapmap]
rs62355632	0.88[EUR][1000 genomes]
rs62355633	0.88[EUR][1000 genomes]
rs6596741	0.83[ASN][1000 genomes]
rs6596742	1.00[CHB][hapmap]
rs6879546	0.85[ASN][1000 genomes]
rs7734574	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs7737882	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs9328010	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs9686509	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MKK][hapmap];0.83[ASN][1000 genomes]
rs975690	1.00[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106926000-106931400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:106926000-106941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:106926800-106930000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:106927200-106930000	Weak transcription	Esophagus	oesophagus
5	chr5:106927800-106930000	Weak transcription	Stomach Mucosa	stomach
6	chr5:106928000-106930600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:106928000-106931200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:106928200-106930200	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:106928200-106930200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:106928200-106930200	Enhancers	Fetal Muscle Leg	muscle
11	chr5:106928200-106930600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:106928200-106930600	Enhancers	Left Ventricle	heart
13	chr5:106928200-106930800	Enhancers	Fetal Heart	heart
14	chr5:106928200-106931000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:106928400-106930600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:106928400-106930600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:106928400-106930600	Enhancers	NHDF-Ad	bronchial
18	chr5:106928600-106930000	Weak transcription	GM12878-XiMat	blood
19	chr5:106928600-106938800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:106928800-106930000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:106928800-106930000	Weak transcription	Hela-S3	cervix
22	chr5:106928800-106930200	Enhancers	Right Ventricle	heart
23	chr5:106929000-106930000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:106929000-106930000	Weak transcription	Gastric	stomach
25	chr5:106929000-106930000	Weak transcription	Lung	lung
26	chr5:106929000-106930200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:106929000-106938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:106929200-106930000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:106929200-106930000	Weak transcription	HSMM	muscle
30	chr5:106929200-106930000	Weak transcription	HSMMtube	muscle
31	chr5:106929200-106930200	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:106929200-106930400	Weak transcription	Right Atrium	heart
33	chr5:106929200-106937800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:106929200-106937800	Weak transcription	Fetal Brain Female	brain
35	chr5:106929400-106930000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:106929400-106931800	Enhancers	A549	lung
37	chr5:106929400-106937800	Weak transcription	Fetal Brain Male	brain
38	chr5:106929400-106945400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:106929600-106930000	Weak transcription	Aorta	Aorta
40	chr5:106929600-106931000	Enhancers	NHEK	skin
41	chr5:106929800-106930200	Enhancers	Dnd41	blood
42	chr5:106929800-106930600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:106929800-106930600	Enhancers	Adipose Nuclei	Adipose
44	chr5:106929800-106930800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:106929800-106930800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:106929800-106930800	Enhancers	HMEC	breast
47	chr5:106929800-106931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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