Variant report

Variant	rs1347925
Chromosome Location	chr5:124593252-124593253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10045892	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11241796	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241797	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959358	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1347923	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348584	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1371371	0.83[AMR][1000 genomes]
rs1439582	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1439583	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1439586	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1439611	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444659	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2118999	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4351146	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5011755	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6595604	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6595606	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6879987	0.94[EUR][1000 genomes]
rs713163	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731555	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7737255	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs996377	0.95[EUR][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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124587000-124594400	Weak transcription	Psoas Muscle	Psoas
2	chr5:124589600-124594400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:124590600-124596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:124591800-124594600	Enhancers	Fetal Heart	heart
5	chr5:124592200-124593400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr5:124592200-124593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:124592200-124593600	Enhancers	Fetal Brain Male	brain
8	chr5:124592400-124594000	Enhancers	HSMMtube	muscle
9	chr5:124592800-124593400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:124592800-124593800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:124592800-124594000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:124592800-124594400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:124593000-124593400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:124593000-124593400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:124593000-124593600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:124593000-124593600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:124593000-124593600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:124593000-124593600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:124593000-124593600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:124593000-124593600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:124593200-124593800	Enhancers	Fetal Brain Female	brain
22	chr5:124593200-124593800	Enhancers	Fetal Lung	lung
23	chr5:124593200-124593800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:124593200-124594000	Enhancers	Brain Germinal Matrix	brain
25	chr5:124593200-124609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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