Variant report

Variant	rs12274345
Chromosome Location	chr11:83730570-83730571
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	chr11:83708534..83710057-chr11:83729711..83731527,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10160486	0.87[CEU][hapmap]
rs11233848	1.00[MEX][hapmap]
rs11233853	1.00[MEX][hapmap]
rs11233863	1.00[MEX][hapmap]
rs11233873	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs11233878	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11233885	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11233886	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11233887	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11233888	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11233889	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11233891	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11233892	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11501812	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12270426	1.00[MEX][hapmap]
rs12272484	1.00[MEX][hapmap]
rs12273926	1.00[MEX][hapmap]
rs12275051	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12275529	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12280070	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282675	1.00[EUR][1000 genomes]
rs12283683	1.00[CEU][hapmap]
rs12286025	1.00[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12286565	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289688	1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12290311	0.97[EUR][1000 genomes]
rs12291418	1.00[MEX][hapmap]
rs12291567	0.86[GIH][hapmap]
rs12292970	1.00[MEX][hapmap]
rs12294444	0.87[CEU][hapmap]
rs12294547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295053	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12575693	0.95[EUR][1000 genomes]
rs1351729	0.89[TSI][hapmap]
rs1384754	1.00[MEX][hapmap]
rs1483402	1.00[MEX][hapmap]
rs1483403	1.00[MEX][hapmap]
rs1483410	0.88[EUR][1000 genomes]
rs1544275	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17146592	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2514164	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28673785	0.90[EUR][1000 genomes]
rs4433587	0.89[EUR][1000 genomes]
rs56209818	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7115622	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7131673	1.00[MEX][hapmap]
rs73513704	0.98[EUR][1000 genomes]
rs7932501	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898025	chr11:83658909-83796678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv898026	chr11:83685801-83789540	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv1814410	chr11:83696133-83775326	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv1809938	chr11:83716145-83789540	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv898027	chr11:83717887-83798485	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv898028	chr11:83717887-83817360	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv898029	chr11:83717887-83939591	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv898030	chr11:83730570-83789540	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83723600-83731400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:83723800-83730600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:83723800-83730600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:83724200-83731000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:83728200-83733200	Enhancers	Brain Hippocampus Middle	brain
6	chr11:83730200-83730800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:83730200-83730800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:83730200-83731400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:83730200-83733600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:83730400-83730800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:83730400-83731200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:83730400-83731200	Enhancers	NH-A	brain
13	chr11:83730400-83731800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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