Variant report

Variant	rs12514246
Chromosome Location	chr5:106992143-106992144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10043284	1.00[ASN][1000 genomes]
rs10043302	1.00[ASN][1000 genomes]
rs10044934	1.00[ASN][1000 genomes]
rs10515374	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519552	1.00[ASN][1000 genomes]
rs12519591	1.00[ASN][1000 genomes]
rs12520660	1.00[ASN][1000 genomes]
rs12522223	1.00[ASN][1000 genomes]
rs17160227	1.00[ASN][1000 genomes]
rs58880008	1.00[ASN][1000 genomes]
rs6881619	1.00[ASN][1000 genomes]
rs6888194	1.00[ASN][1000 genomes]
rs755966	1.00[ASN][1000 genomes]
rs7726649	1.00[ASN][1000 genomes]
rs7732162	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957662	1.00[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	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
2	esv1797335	chr5:106981612-107004761	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106986000-106992200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:106986400-106993600	Enhancers	A549	lung
3	chr5:106987600-107001000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:106988000-106992200	Enhancers	Fetal Heart	heart
5	chr5:106988200-106992200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:106989000-106992200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:106989200-106992200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:106989200-106997000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:106989200-107003000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:106989400-107004000	Weak transcription	Fetal Stomach	stomach
11	chr5:106989600-106997800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:106989600-107002000	Weak transcription	Fetal Lung	lung
13	chr5:106989800-106997000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:106990400-106997000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:106990800-106992200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:106990800-106992200	Enhancers	NHEK	skin
17	chr5:106991200-106992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:106991400-106992200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:106991400-106992200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:106991400-106992200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:106991400-106992200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:106991600-106992200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:106991800-106996200	Weak transcription	GM12878-XiMat	blood
24	chr5:106991800-106996800	Weak transcription	Left Ventricle	heart
25	chr5:106991800-107001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:106992000-106993600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:106992000-106993800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:106992000-106996600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:106992000-107001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:106992000-107002000	Weak transcription	HMEC	breast

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