Variant report

Variant	rs2711713
Chromosome Location	chr12:47417751-47417752
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47409351..47411528-chr12:47417449..47418991,2	K562	blood:
2	chr12:47417417..47420074-chr12:47466882..47469714,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10736030	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10748457	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10748458	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10748460	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785650	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10785653	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881024	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10881026	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10881027	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10881029	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10881030	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881031	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881033	0.93[EUR][1000 genomes]
rs1557781	0.95[EUR][1000 genomes]
rs1859112	0.96[EUR][1000 genomes]
rs2158133	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2214335	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408711	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2711698	0.95[EUR][1000 genomes]
rs4768769	0.94[ASN][1000 genomes]
rs7133990	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7136412	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7139043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311552	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs757149	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs757150	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956056	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7956758	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7958499	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7961460	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7976595	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8181633	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs886315	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs886317	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47411000-47418200	Enhancers	NHEK	skin
2	chr12:47413800-47418000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47413800-47418400	Enhancers	HSMMtube	muscle
4	chr12:47414000-47418400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:47414000-47418600	Enhancers	HSMM	muscle
6	chr12:47414000-47418800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:47414800-47417800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:47415200-47418600	Enhancers	HMEC	breast
9	chr12:47415200-47419200	Enhancers	Osteobl	bone
10	chr12:47416400-47418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:47416600-47419400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:47416600-47422800	Weak transcription	A549	lung
13	chr12:47416800-47417800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:47416800-47418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:47417200-47418000	Weak transcription	NHLF	lung
16	chr12:47417400-47417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:47417600-47417800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:47417600-47418400	Enhancers	Liver	Liver

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