Variant report

Variant	rs29480
Chromosome Location	chr7:41183777-41183778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:41183525..41185543-chr7:41189175..41191996,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10227446	0.91[ASN][1000 genomes]
rs10227663	0.89[ASN][1000 genomes]
rs10256962	0.91[ASN][1000 genomes]
rs10258940	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10274211	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10279346	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10755853	0.88[ASN][1000 genomes]
rs10755854	0.89[ASN][1000 genomes]
rs12670349	0.85[ASN][1000 genomes]
rs12701863	0.87[ASN][1000 genomes]
rs12701864	0.87[ASN][1000 genomes]
rs13222193	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs13222281	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs13234888	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs13246656	0.83[ASN][1000 genomes]
rs1859692	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859693	0.94[ASN][1000 genomes]
rs1859694	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108155	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108156	0.94[ASN][1000 genomes]
rs2108157	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2190329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2330001	0.88[ASN][1000 genomes]
rs28176	0.92[EUR][1000 genomes]
rs28314	0.91[AFR][1000 genomes]
rs28880	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs29476	0.95[ASN][1000 genomes]
rs29477	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs29478	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs29479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29481	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs29482	0.95[ASN][1000 genomes]
rs29484	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs29485	0.91[AFR][1000 genomes]
rs29486	0.91[AFR][1000 genomes]
rs29488	0.91[AFR][1000 genomes]
rs29492	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs29493	0.89[AFR][1000 genomes]
rs29494	0.87[AFR][1000 genomes]
rs29496	0.89[AFR][1000 genomes]
rs29497	0.89[AFR][1000 genomes]
rs29498	0.89[AFR][1000 genomes]
rs29500	0.89[AFR][1000 genomes]
rs29503	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs29505	0.89[AFR][1000 genomes]
rs29508	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29509	0.92[EUR][1000 genomes]
rs29511	0.92[EUR][1000 genomes]
rs29516	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29517	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29519	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs29522	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs29523	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs29524	0.90[EUR][1000 genomes]
rs4720399	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4724027	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4724028	0.88[ASN][1000 genomes]
rs4724029	0.92[ASN][1000 genomes]
rs6463004	0.89[ASN][1000 genomes]
rs6463005	0.89[ASN][1000 genomes]
rs6463006	0.92[ASN][1000 genomes]
rs6463007	0.92[ASN][1000 genomes]
rs6463008	0.87[ASN][1000 genomes]
rs6945256	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6945901	0.92[ASN][1000 genomes]
rs6946898	0.92[ASN][1000 genomes]
rs6947021	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6958423	0.92[ASN][1000 genomes]
rs6958959	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967416	0.88[ASN][1000 genomes]
rs6970635	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971196	0.86[ASN][1000 genomes]
rs6971616	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6975061	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6978132	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790556	0.91[ASN][1000 genomes]
rs7799191	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7805795	0.92[ASN][1000 genomes]
rs7809083	0.85[ASN][1000 genomes]
rs9632614	0.89[ASN][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	nsv1034605	chr7:41096638-41222426	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1028983	chr7:41165668-41635954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41174400-41187800	Weak transcription	NHLF	lung
2	chr7:41175800-41185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:41182200-41183800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:41182200-41183800	Enhancers	HMEC	breast
5	chr7:41182600-41184000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:41182600-41185200	Weak transcription	Fetal Stomach	stomach
7	chr7:41183200-41184800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:41183400-41184000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:41183400-41184000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:41183600-41183800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:41183600-41183800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:41183600-41184000	Enhancers	Osteobl	bone
13	chr7:41183600-41184200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:41183600-41187200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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