Variant report

Variant	rs2246363
Chromosome Location	chr2:145783282-145783283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12691702	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13386034	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1371045	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1438895	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1837294	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2256602	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2950790	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3901734	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145780400-145784200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:145780600-145787400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:145780800-145784200	Weak transcription	Fetal Lung	lung
4	chr2:145781000-145784200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:145781000-145785600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:145781200-145785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:145781400-145784200	Weak transcription	Ovary	ovary
8	chr2:145781400-145784200	Weak transcription	HSMMtube	muscle
9	chr2:145781400-145785000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:145781600-145784000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:145781800-145784200	Enhancers	Osteobl	bone
12	chr2:145782000-145784200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:145782000-145784200	Weak transcription	NHLF	lung
14	chr2:145782000-145784400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:145782000-145784400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:145782400-145783600	Enhancers	A549	lung
17	chr2:145782600-145784800	Enhancers	NHDF-Ad	bronchial
18	chr2:145783000-145783400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:145783000-145783600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:145783000-145783800	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:145783000-145783800	Enhancers	Brain Hippocampus Middle	brain
22	chr2:145783000-145787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:145783200-145786800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:145783200-145787200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links