Variant report

Variant	rs2292727
Chromosome Location	chr5:40980102-40980103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1061443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153342	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188487	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188500	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12655049	0.83[EUR][1000 genomes]
rs13161930	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13187430	0.84[EUR][1000 genomes]
rs14190	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450665	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16870568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1901167	0.81[ASW][hapmap];0.94[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs1996343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329433	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34641824	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34772674	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792647	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805215	0.81[EUR][1000 genomes]
rs41271065	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357072	0.84[EUR][1000 genomes]
rs72749584	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7713884	0.83[EUR][1000 genomes]
rs881391	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv880796	chr5:40934832-40985604	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40931200-40992200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:40931800-40991000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:40959800-40980800	Weak transcription	Lung	lung
4	chr5:40960400-40989600	Weak transcription	Left Ventricle	heart
5	chr5:40961400-40981400	Weak transcription	Spleen	Spleen
6	chr5:40968200-40990400	Weak transcription	Fetal Intestine Large	intestine
7	chr5:40972200-40984000	Weak transcription	Right Ventricle	heart
8	chr5:40975000-40980800	Strong transcription	Fetal Lung	lung
9	chr5:40975600-40982600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:40975600-40985800	Weak transcription	Fetal Brain Male	brain
11	chr5:40976800-40985000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:40977800-40981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:40977800-40984000	Weak transcription	Fetal Intestine Small	intestine
14	chr5:40978000-40981400	Weak transcription	Fetal Stomach	stomach
15	chr5:40979400-40982400	Strong transcription	Ovary	ovary
16	chr5:40979400-40991000	Weak transcription	Fetal Kidney	kidney

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