Variant report

Variant	rs2697598
Chromosome Location	chr5:96633928-96633929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1000082	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1000083	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10068664	0.86[ASN][1000 genomes]
rs10463199	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10866776	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135499	0.93[ASN][1000 genomes]
rs12109601	0.83[AMR][1000 genomes]
rs13163725	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13169233	0.83[EUR][1000 genomes]
rs1406325	0.93[ASN][1000 genomes]
rs1406326	0.96[ASN][1000 genomes]
rs1528592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528594	0.93[ASN][1000 genomes]
rs1609326	0.96[ASN][1000 genomes]
rs1609327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830366	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1830368	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183410	0.86[ASN][1000 genomes]
rs1852739	0.96[ASN][1000 genomes]
rs1862592	0.93[ASN][1000 genomes]
rs1919244	0.93[ASN][1000 genomes]
rs1919245	0.93[ASN][1000 genomes]
rs1997296	0.93[ASN][1000 genomes]
rs2081139	0.93[ASN][1000 genomes]
rs2081140	0.93[ASN][1000 genomes]
rs2081142	0.93[ASN][1000 genomes]
rs2351504	0.86[ASN][1000 genomes]
rs2351506	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2548423	0.93[ASN][1000 genomes]
rs2643465	0.96[ASN][1000 genomes]
rs2643496	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2643503	0.96[ASN][1000 genomes]
rs2643577	0.96[ASN][1000 genomes]
rs2697637	0.96[ASN][1000 genomes]
rs291805	0.84[EUR][1000 genomes]
rs3108540	0.93[ASN][1000 genomes]
rs317112	0.89[ASN][1000 genomes]
rs35887125	0.83[AMR][1000 genomes]
rs4869152	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4869153	0.93[ASN][1000 genomes]
rs4869156	0.93[ASN][1000 genomes]
rs6556953	0.89[ASN][1000 genomes]
rs6862780	0.83[AMR][1000 genomes]
rs6874040	0.93[ASN][1000 genomes]
rs6899065	0.93[ASN][1000 genomes]
rs71654364	0.83[EUR][1000 genomes]
rs7718270	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7721798	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7723203	0.93[ASN][1000 genomes]
rs9314193	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9686259	0.93[ASN][1000 genomes]
rs9687077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972717	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1032548	chr5:96565121-97046804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv537813	chr5:96565121-97046804	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv830415	chr5:96597763-96764157	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv598964	chr5:96612401-96705762	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1025654	chr5:96613448-96817528	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96633200-96636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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