Variant report

Variant	rs1382710
Chromosome Location	chr5:117531497-117531498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10054605	1.00[ASN][1000 genomes]
rs10054660	1.00[ASN][1000 genomes]
rs10066475	1.00[ASN][1000 genomes]
rs10070724	1.00[ASN][1000 genomes]
rs10070867	1.00[ASN][1000 genomes]
rs10900722	0.94[AFR][1000 genomes]
rs11241449	0.94[AFR][1000 genomes]
rs11739202	1.00[ASN][1000 genomes]
rs11746027	0.91[AFR][1000 genomes]
rs13168790	0.90[AFR][1000 genomes]
rs13187513	1.00[ASN][1000 genomes]
rs13188829	0.90[AFR][1000 genomes]
rs1382702	0.89[AFR][1000 genomes]
rs1382703	0.91[AFR][1000 genomes]
rs1382704	0.91[AFR][1000 genomes]
rs1382705	0.90[AFR][1000 genomes]
rs1382706	0.82[AFR][1000 genomes]
rs1382708	0.89[AFR][1000 genomes]
rs1382709	1.00[ASN][1000 genomes]
rs1382711	0.91[AFR][1000 genomes]
rs1382712	0.91[AFR][1000 genomes]
rs1479180	0.90[AFR][1000 genomes]
rs1479181	0.90[AFR][1000 genomes]
rs1479182	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1531595	0.94[AFR][1000 genomes]
rs1531596	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1600299	0.94[AFR][1000 genomes]
rs1600300	0.94[AFR][1000 genomes]
rs1600301	0.94[AFR][1000 genomes]
rs1600302	0.94[AFR][1000 genomes]
rs1600304	0.94[AFR][1000 genomes]
rs1600307	0.94[AFR][1000 genomes]
rs17143751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17143755	1.00[ASN][1000 genomes]
rs17143760	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1842157	0.91[AFR][1000 genomes]
rs1842159	0.94[AFR][1000 genomes]
rs1871365	1.00[ASN][1000 genomes]
rs2061882	0.92[AFR][1000 genomes]
rs2061883	0.84[AFR][1000 genomes]
rs2127252	0.91[AFR][1000 genomes]
rs2127253	0.89[AFR][1000 genomes]
rs2127262	0.90[AFR][1000 genomes]
rs2127263	0.88[AFR][1000 genomes]
rs2169939	0.91[AFR][1000 genomes]
rs2169940	0.91[AFR][1000 genomes]
rs2199737	0.83[AFR][1000 genomes]
rs2219818	0.94[AFR][1000 genomes]
rs2416511	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2416512	0.92[AFR][1000 genomes]
rs2416514	0.91[AFR][1000 genomes]
rs28566849	0.89[AFR][1000 genomes]
rs2900116	0.92[AFR][1000 genomes]
rs34074197	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36010636	0.94[AFR][1000 genomes]
rs3919878	0.91[AFR][1000 genomes]
rs4270731	0.92[AFR][1000 genomes]
rs4270733	0.89[AFR][1000 genomes]
rs4499871	0.90[AFR][1000 genomes]
rs6595097	0.86[AFR][1000 genomes]
rs6595098	0.89[AFR][1000 genomes]
rs6861306	1.00[ASN][1000 genomes]
rs6861646	1.00[ASN][1000 genomes]
rs6882855	1.00[ASN][1000 genomes]
rs6887046	0.91[AFR][1000 genomes]
rs6887724	0.91[AFR][1000 genomes]
rs7446744	0.82[AFR][1000 genomes]
rs7447485	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7447802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448647	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7700966	0.92[AFR][1000 genomes]
rs7704669	0.90[AFR][1000 genomes]
rs7704694	0.90[AFR][1000 genomes]
rs7720781	0.94[AFR][1000 genomes]
rs7725490	0.93[AFR][1000 genomes]
rs936569	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1021879	chr5:117386077-117570453	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2422395	chr5:117442806-117887910	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv882762	chr5:117499480-117706786	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1026314	chr5:117513961-117532376	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117530600-117532200	Enhancers	Rectal Smooth Muscle	rectum
2	chr5:117531000-117531600	Enhancers	Colon Smooth Muscle	Colon
3	chr5:117531200-117531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:117531200-117534200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:117531400-117534800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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