Variant report

Variant	rs1999517
Chromosome Location	chr13:61334808-61334809
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10162120	0.81[ASN][1000 genomes]
rs1028071	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11838990	0.96[ASN][1000 genomes]
rs1355906	0.81[CEU][hapmap];0.83[YRI][hapmap]
rs1399140	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1399141	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1399142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1514158	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1514168	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1855191	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2090087	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184070	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2203366	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3106554	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3106555	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3106556	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3119864	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3119879	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3119880	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3119882	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3119883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3119884	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3120232	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3127026	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3127027	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3127029	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3127030	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3127033	0.85[EUR][1000 genomes]
rs3127037	0.85[EUR][1000 genomes]
rs3967110	0.83[ASN][1000 genomes]
rs4886268	0.99[ASN][1000 genomes]
rs4886269	1.00[ASN][1000 genomes]
rs4886275	0.96[ASN][1000 genomes]
rs73219646	0.91[ASN][1000 genomes]
rs925641	0.85[EUR][1000 genomes]
rs9285228	0.97[ASN][1000 genomes]
rs9317135	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9317136	0.83[ASN][1000 genomes]
rs9317137	1.00[ASN][1000 genomes]
rs9528218	0.97[ASN][1000 genomes]
rs9528220	0.96[ASN][1000 genomes]
rs9538903	0.83[ASN][1000 genomes]
rs9538904	0.82[ASN][1000 genomes]
rs9538922	0.97[ASN][1000 genomes]
rs9598169	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv817223	chr13:60623429-61453435	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv900241	chr13:61217896-61368021	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832623	chr13:61303818-61468576	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1037954	chr13:61319533-61395907	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv561866	chr13:61328813-61388794	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61330400-61335000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:61332600-61339400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:61333000-61339400	Weak transcription	Fetal Intestine Large	intestine
4	chr13:61333800-61339400	Weak transcription	Fetal Intestine Small	intestine
5	chr13:61333800-61340000	Weak transcription	HMEC	breast
6	chr13:61334000-61339400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:61334200-61335000	Enhancers	HUVEC	blood vessel
8	chr13:61334600-61335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:61334600-61339200	Weak transcription	Fetal Heart	heart
10	chr13:61334600-61339400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:61334600-61339800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:61334600-61339800	Weak transcription	NHEK	skin

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