Variant report

Variant	rs1406225
Chromosome Location	chr2:145797829-145797830
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1528412	0.81[AFR][1000 genomes]
rs1550323	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17408223	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17408272	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2243648	0.83[AFR][1000 genomes]
rs2246142	0.83[AFR][1000 genomes]
rs2256460	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2381684	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59333087	0.87[AMR][1000 genomes]
rs6722557	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7583863	0.85[EUR][1000 genomes];0.92[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145789200-145802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145795000-145799000	Weak transcription	Aorta	Aorta
3	chr2:145796000-145798800	Weak transcription	Esophagus	oesophagus
4	chr2:145796000-145799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145796000-145808600	Weak transcription	Ovary	ovary
6	chr2:145796200-145799400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:145796200-145799600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:145796200-145800600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:145796200-145801000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:145796200-145801000	Weak transcription	Left Ventricle	heart
11	chr2:145796200-145802400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:145796400-145798800	Weak transcription	Osteobl	bone
13	chr2:145796400-145799400	Weak transcription	A549	lung
14	chr2:145796400-145799600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:145797400-145799200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:145797600-145799000	Weak transcription	NHDF-Ad	bronchial
17	chr2:145797800-145799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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