Variant report

Variant	rs30331
Chromosome Location	chr5:148168469-148168470
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:148168454..148171371-chr5:148185797..148188904,3	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10078616	0.87[EUR][1000 genomes]
rs10747517	0.88[EUR][1000 genomes]
rs10747518	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875640	0.88[EUR][1000 genomes]
rs11168059	0.88[EUR][1000 genomes]
rs11168060	0.88[EUR][1000 genomes]
rs11168061	0.87[EUR][1000 genomes]
rs11168062	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11747905	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11750926	0.89[EUR][1000 genomes]
rs12189260	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12517142	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12653443	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12654719	0.88[EUR][1000 genomes]
rs1368279	0.89[EUR][1000 genomes]
rs17108721	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs185021	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082397	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2082398	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2163751	0.89[EUR][1000 genomes]
rs2163752	0.89[EUR][1000 genomes]
rs2400644	0.87[EUR][1000 genomes]
rs2400645	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2400702	0.89[EUR][1000 genomes]
rs2400703	0.89[EUR][1000 genomes]
rs2400704	0.89[EUR][1000 genomes]
rs246502	0.89[EUR][1000 genomes]
rs246503	0.82[EUR][1000 genomes]
rs246504	0.90[EUR][1000 genomes]
rs2568940	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2569000	0.90[EUR][1000 genomes]
rs2569001	0.90[EUR][1000 genomes]
rs2895774	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs30305	0.90[EUR][1000 genomes]
rs30306	0.89[EUR][1000 genomes]
rs30307	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs30308	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs30309	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs30310	0.90[EUR][1000 genomes]
rs30311	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs30312	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs30313	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs30314	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30315	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs30316	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs30317	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs30318	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs30320	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs30321	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs30322	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs30323	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs30324	0.89[EUR][1000 genomes]
rs30325	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30326	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs30327	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs30328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs30329	0.91[EUR][1000 genomes]
rs30330	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3097815	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs39835	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs40949	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4513680	0.88[EUR][1000 genomes]
rs4705058	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705261	0.88[EUR][1000 genomes]
rs4705262	0.88[EUR][1000 genomes]
rs4705263	0.88[EUR][1000 genomes]
rs4705265	0.88[EUR][1000 genomes]
rs56043944	0.88[EUR][1000 genomes]
rs56376672	0.89[EUR][1000 genomes]
rs59386367	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59598688	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62388002	0.87[EUR][1000 genomes]
rs6580579	0.89[EUR][1000 genomes]
rs6580580	0.89[EUR][1000 genomes]
rs6861953	0.88[EUR][1000 genomes]
rs6865781	0.88[EUR][1000 genomes]
rs6867058	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6870415	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6870429	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6870766	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6874249	0.88[EUR][1000 genomes]
rs6874997	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6879964	0.87[EUR][1000 genomes]
rs6882470	0.88[EUR][1000 genomes]
rs6882476	0.88[EUR][1000 genomes]
rs6883606	0.88[EUR][1000 genomes]
rs6885216	0.87[EUR][1000 genomes]
rs6886359	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6892967	0.85[EUR][1000 genomes]
rs7702609	0.88[EUR][1000 genomes]
rs7737439	0.82[EUR][1000 genomes]
rs888953	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs888954	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs888955	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs919723	0.88[EUR][1000 genomes]
rs919724	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883021	chr5:148060817-148182123	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv462481	chr5:148130138-148172689	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599946	chr5:148130138-148172689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148157200-148170200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:148157200-148170600	Weak transcription	NHDF-Ad	bronchial
3	chr5:148161400-148168600	Weak transcription	Esophagus	oesophagus
4	chr5:148166600-148170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:148166800-148170800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:148168000-148168800	Enhancers	Osteobl	bone
7	chr5:148168000-148170200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:148168000-148170200	Enhancers	NHEK	skin
9	chr5:148168000-148171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:148168200-148168800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:148168200-148168800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:148168200-148168800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:148168200-148168800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:148168200-148170200	Enhancers	HMEC	breast
15	chr5:148168200-148170400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:148168400-148168600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:148168400-148168600	Enhancers	Hela-S3	cervix

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