Variant report

Variant	rs61942812
Chromosome Location	chr12:48807226-48807227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11168613	0.80[EUR][1000 genomes]
rs12578360	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12581223	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12582586	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582594	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17234937	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28889727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397895	0.80[EUR][1000 genomes]
rs4426170	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4547144	0.80[EUR][1000 genomes]
rs55647233	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55667337	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55971664	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55983865	0.81[EUR][1000 genomes]
rs56034252	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56191575	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59337124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940763	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61940764	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61940766	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61940767	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61940768	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61940776	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61940777	0.80[EUR][1000 genomes]
rs61940779	0.80[EUR][1000 genomes]
rs61940780	0.80[EUR][1000 genomes]
rs61942785	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61942786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61942813	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942816	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942817	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942828	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61942829	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61942830	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61942831	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48804200-48808400	Weak transcription	Left Ventricle	heart
2	chr12:48804400-48807600	Weak transcription	K562	blood
3	chr12:48806800-48807600	Enhancers	Stomach Smooth Muscle	stomach
4	chr12:48807000-48807400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:48807000-48807400	Enhancers	Brain Hippocampus Middle	brain
6	chr12:48807000-48808600	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:48807000-48808800	Enhancers	Colon Smooth Muscle	Colon
8	chr12:48807000-48809000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:48807000-48809000	Enhancers	Fetal Lung	lung
10	chr12:48807200-48807400	Enhancers	Right Atrium	heart
11	chr12:48807200-48808200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:48807200-48808400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:48807200-48808600	Enhancers	Brain Angular Gyrus	brain
14	chr12:48807200-48808600	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:48807200-48808800	Enhancers	Ovary	ovary

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