Variant report

Variant	rs1457112
Chromosome Location	chr5:58727731-58727732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10514863	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10514864	0.99[ASN][1000 genomes]
rs1156029	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12514658	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12518641	0.97[ASN][1000 genomes]
rs12521370	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1551564	0.97[ASN][1000 genomes]
rs16889853	0.80[ASN][1000 genomes]
rs16889876	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16889882	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16889883	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16889885	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1848059	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1848060	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2034893	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2034894	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2112910	0.97[ASN][1000 genomes]
rs2161513	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28505532	1.00[ASN][1000 genomes]
rs28666954	0.97[ASN][1000 genomes]
rs28706428	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28729916	0.97[ASN][1000 genomes]
rs41447947	0.97[ASN][1000 genomes]
rs58232524	0.97[ASN][1000 genomes]
rs59152084	0.97[ASN][1000 genomes]
rs59246284	0.93[ASN][1000 genomes]
rs60509830	0.97[ASN][1000 genomes]
rs72767785	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7709897	0.84[AMR][1000 genomes]
rs7724786	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs992726	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9942415	0.85[AMR][1000 genomes];0.93[EUR][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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv598253	chr5:58675538-58754510	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58705600-58751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58709800-58756800	Weak transcription	Aorta	Aorta
3	chr5:58714800-58731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:58716000-58756600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58719400-58738400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:58720000-58728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:58720000-58730200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:58726200-58731000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:58726600-58730200	Weak transcription	Psoas Muscle	Psoas
10	chr5:58726800-58730400	Weak transcription	Fetal Brain Male	brain
11	chr5:58726800-58731800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:58727000-58731600	Weak transcription	Fetal Brain Female	brain
13	chr5:58727400-58727800	Weak transcription	Brain Germinal Matrix	brain
14	chr5:58727400-58728000	Weak transcription	A549	lung
15	chr5:58727600-58728000	Weak transcription	Liver	Liver

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