Variant report

Variant	rs9316662
Chromosome Location	chr13:54358262-54358263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1336925	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17088933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17088940	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932868	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2785824	0.86[EUR][1000 genomes]
rs2785825	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2785827	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2785828	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2785829	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806723	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2806726	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806728	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806730	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4884592	0.84[AFR][1000 genomes]
rs7323659	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7327272	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7327291	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7328571	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949944	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9563181	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568889	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568925	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9634689	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044137	chr13:54124103-54521120	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv541777	chr13:54124103-54521120	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv34743	chr13:54313729-54424593	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757532	chr13:54333209-54421334	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759937	chr13:54333209-54421334	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv427931	chr13:54352943-54543848	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv826646	chr13:54355102-54423461	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54356000-54358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:54356600-54361600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:54357000-54361200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:54357000-54361400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:54357200-54358400	Enhancers	Fetal Brain Male	brain
6	chr13:54357200-54358400	Enhancers	Fetal Brain Female	brain
7	chr13:54357200-54358600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:54357200-54361400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:54357200-54361600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:54357400-54362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:54358000-54362400	Weak transcription	H1 Cell Line	embryonic stem cell

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