Variant report

Variant	rs8002366
Chromosome Location	chr13:93999944-93999945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11618902	0.82[JPT][hapmap]
rs11618940	0.82[JPT][hapmap]
rs11619144	0.82[JPT][hapmap]
rs1359198	1.00[CEU][hapmap]
rs1359199	0.83[JPT][hapmap]
rs1445266	1.00[CEU][hapmap]
rs17234460	1.00[CEU][hapmap]
rs17300206	1.00[CEU][hapmap]
rs1980727	0.91[CEU][hapmap]
rs2025947	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038727	1.00[CEU][hapmap]
rs2762082	0.91[CEU][hapmap]
rs3814277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4771875	1.00[CEU][hapmap]
rs4773745	1.00[CEU][hapmap]
rs4773747	1.00[CEU][hapmap]
rs72639035	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7329539	1.00[CEU][hapmap]
rs7332108	0.83[JPT][hapmap]
rs7338402	0.91[CEU][hapmap]
rs7987449	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7994277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7994395	0.82[JPT][hapmap]
rs7997302	1.00[CEU][hapmap]
rs7999016	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs876808	1.00[CEU][hapmap]
rs9301870	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9301877	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9516223	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9516225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524014	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9524016	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9524018	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9524038	1.00[CEU][hapmap]
rs9524039	1.00[CEU][hapmap]
rs9524070	0.91[CEU][hapmap]
rs9556280	0.86[JPT][hapmap]
rs9556286	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9556289	1.00[CEU][hapmap]
rs9561312	0.86[JPT][hapmap]
rs9561315	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561316	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9561326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9561329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9561334	0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes]
rs9561336	1.00[CEU][hapmap]
rs9561340	1.00[CEU][hapmap]
rs9561346	0.89[CEU][hapmap]
rs973302	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv900919	chr13:93957816-94030693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv530636	chr13:93997311-94281707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93998600-94000200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:93998800-94000600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:93998800-94000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:93998800-94000800	Weak transcription	Fetal Lung	lung
5	chr13:93998800-94007000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:93999000-94000800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:93999000-94001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:93999800-94000000	Enhancers	HepG2	liver

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