Variant report

Variant	rs12477111
Chromosome Location	chr2:145786540-145786541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145785797..145788281-chr2:145794965..145797267,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1006923	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206585	0.80[ASN][1000 genomes]
rs10928241	0.90[ASN][1000 genomes]
rs1125128	0.90[ASN][1000 genomes]
rs12474485	0.90[ASN][1000 genomes]
rs12476923	0.90[ASN][1000 genomes]
rs12691704	0.90[ASN][1000 genomes]
rs12992411	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995180	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13015800	0.90[ASN][1000 genomes]
rs13384504	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13389190	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428423	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830318	0.90[ASN][1000 genomes]
rs1830320	0.90[ASN][1000 genomes]
rs1881409	0.90[ASN][1000 genomes]
rs1881410	0.90[ASN][1000 genomes]
rs2663966	0.85[ASN][1000 genomes]
rs34029033	0.90[ASN][1000 genomes]
rs34372836	0.85[ASN][1000 genomes]
rs35462154	0.90[ASN][1000 genomes]
rs35805189	0.95[ASN][1000 genomes]
rs6430076	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430078	0.85[ASN][1000 genomes]
rs6721988	0.90[ASN][1000 genomes]
rs6747171	0.90[ASN][1000 genomes]
rs6747275	0.90[ASN][1000 genomes]
rs6749506	0.90[ASN][1000 genomes]
rs7423637	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7562803	0.90[ASN][1000 genomes]
rs786222	0.80[EUR][1000 genomes]
rs786242	0.81[EUR][1000 genomes]
rs786244	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs786247	0.80[EUR][1000 genomes]
rs787427	0.80[ASN][1000 genomes]
rs957292	0.90[ASN][1000 genomes]
rs957293	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145780600-145787400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145783000-145787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:145783200-145786800	Weak transcription	Brain Anterior Caudate	brain
4	chr2:145783200-145787200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:145783400-145787200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:145783800-145786600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:145783800-145787200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:145784400-145787600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:145784400-145787800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:145785600-145787200	Weak transcription	NHLF	lung
11	chr2:145785800-145786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:145785800-145786600	Active TSS	Ovary	ovary
13	chr2:145785800-145786800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:145785800-145786800	Flanking Active TSS	Osteobl	bone
15	chr2:145786000-145786600	Enhancers	Right Atrium	heart
16	chr2:145786000-145787200	Weak transcription	NHDF-Ad	bronchial
17	chr2:145786000-145787600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:145786000-145787600	Active TSS	A549	lung
19	chr2:145786000-145793600	Weak transcription	HSMMtube	muscle
20	chr2:145786200-145787400	Weak transcription	Fetal Heart	heart
21	chr2:145786200-145789800	Enhancers	Fetal Lung	lung
22	chr2:145786400-145787400	Weak transcription	Adipose Nuclei	Adipose

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