Variant report

Variant	rs17147238
Chromosome Location	chr7:124176489-124176490
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:13)

rs_ID	r²[population]
rs10243704	0.90[EUR][1000 genomes]
rs1073554	0.90[EUR][1000 genomes]
rs10954040	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1181796	0.92[EUR][1000 genomes]
rs12668485	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239002	0.83[EUR][1000 genomes]
rs13239082	0.83[EUR][1000 genomes]
rs1568813	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17147231	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1917352	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1949834	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219091	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7791861	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795113	chr7:123885477-124188665	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	esv1808414	chr7:123957376-124188665	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv525687	chr7:124138187-124196444	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv608340	chr7:124138187-124196444	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv831118	chr7:124172267-124347527	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124175800-124176800	Enhancers	HepG2	liver
2	chr7:124175800-124177000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:124175800-124177200	Enhancers	Fetal Lung	lung
4	chr7:124176000-124177000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:124176000-124177000	Enhancers	Liver	Liver
6	chr7:124176000-124177000	Enhancers	Hela-S3	cervix
7	chr7:124176200-124176600	Flanking Active TSS	A549	lung
8	chr7:124176200-124176800	Enhancers	NHLF	lung
9	chr7:124176200-124177000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:124176200-124177000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:124176200-124177000	Enhancers	NH-A	brain
12	chr7:124176200-124177800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:124176400-124177000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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