Variant report

Variant	rs56045349
Chromosome Location	chr3:59975427-59975428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10510820	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12486471	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12489929	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490649	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061712	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17253376	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17254898	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17309998	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17320834	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17375293	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3772466	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772470	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3772479	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55649496	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55728186	1.00[ASN][1000 genomes]
rs55815123	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56963766	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58197240	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60347439	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089911	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089917	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089929	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73104585	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104597	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106507	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106547	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106565	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106568	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv876838	chr3:59952152-59999690	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv590388	chr3:59957252-60018326	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv965380	chr3:59970574-59976399	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59967400-59993000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:59968000-59986600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:59968400-59982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:59972000-59977000	Weak transcription	Dnd41	blood
5	chr3:59972800-59976800	Enhancers	Primary T cells from cord blood	blood
6	chr3:59972800-59980400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:59972800-59983600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr3:59973000-59975600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:59973000-59975800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr3:59973200-59976200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:59973200-59977800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:59974200-59983000	Enhancers	Fetal Thymus	thymus
13	chr3:59974400-59983000	Enhancers	Thymus	Thymus
14	chr3:59974600-59976000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:59975200-59979200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:59975200-59984000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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