Variant report

Variant	rs62271281
Chromosome Location	chr3:115748522-115748523
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	chr3:115722266..115725111-chr3:115746899..115749615,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11425708	0.80[ASN][1000 genomes]
rs11918080	0.80[ASN][1000 genomes]
rs12695319	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13075363	0.80[AMR][1000 genomes]
rs13315058	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13319721	0.82[AMR][1000 genomes]
rs17630430	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1920360	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920379	0.80[ASN][1000 genomes]
rs2091669	0.80[ASN][1000 genomes]
rs2222827	0.80[ASN][1000 genomes]
rs28413947	0.84[AMR][1000 genomes]
rs28735793	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33956431	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34523792	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34543919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34705863	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34844901	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35080450	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35470268	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35780065	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35914238	0.80[ASN][1000 genomes]
rs4277685	0.80[AMR][1000 genomes]
rs4831121	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831225	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831227	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4831228	0.80[ASN][1000 genomes]
rs5004406	0.80[ASN][1000 genomes]
rs66490447	0.80[ASN][1000 genomes]
rs6765355	0.80[ASN][1000 genomes]
rs6772113	0.80[ASN][1000 genomes]
rs73139202	0.80[ASN][1000 genomes]
rs7637650	0.80[ASN][1000 genomes]
rs9289042	0.82[ASN][1000 genomes]
rs9816425	0.80[ASN][1000 genomes]
rs9818948	0.86[AMR][1000 genomes]
rs9821040	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821865	0.80[ASN][1000 genomes]
rs9822568	0.80[ASN][1000 genomes]
rs9824605	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836963	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9837276	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9839078	0.80[ASN][1000 genomes]
rs9851643	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9854345	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9854711	0.80[ASN][1000 genomes]
rs9855097	0.80[ASN][1000 genomes]
rs9857520	0.80[ASN][1000 genomes]
rs9858539	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9866484	0.80[ASN][1000 genomes]
rs9868706	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873576	0.84[ASN][1000 genomes]
rs9877662	0.80[ASN][1000 genomes]
rs9878289	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9878559	0.99[EUR][1000 genomes];0.97[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	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv829685	chr3:115643521-115812913	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1001538	chr3:115746561-115791116	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115743200-115758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:115746600-115752600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:115747400-115753000	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:115747600-115749000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr3:115748000-115748800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:115748000-115748800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:115748000-115748800	Enhancers	NHEK	skin
8	chr3:115748200-115748600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:115748400-115748800	Enhancers	HMEC	breast
10	chr3:115748400-115757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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