Variant report

Variant	rs1997287
Chromosome Location	chr2:145875289-145875290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10496974	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12988894	0.92[ASN][1000 genomes]
rs13002944	0.83[ASN][1000 genomes]
rs13014698	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13035660	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1509563	0.84[ASN][1000 genomes]
rs1509564	0.84[ASN][1000 genomes]
rs16824481	0.90[ASN][1000 genomes]
rs16824484	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1852681	0.90[ASN][1000 genomes]
rs28409418	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28534561	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28837998	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35541381	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35690045	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4144811	0.84[ASN][1000 genomes]
rs67571782	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs68088326	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7426239	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	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
2	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1004846	chr2:145852801-145919056	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145857600-145881200	Weak transcription	Ovary	ovary
2	chr2:145866800-145877800	Weak transcription	Aorta	Aorta
3	chr2:145869000-145914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:145869400-145876800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:145872000-145880800	Weak transcription	Fetal Stomach	stomach
6	chr2:145872200-145892000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:145874200-145875800	Enhancers	NHDF-Ad	bronchial
8	chr2:145874400-145875400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:145874400-145875400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:145874600-145875400	Enhancers	Adipose Nuclei	Adipose
11	chr2:145874600-145875400	Enhancers	Osteobl	bone
12	chr2:145874800-145875400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:145875000-145875400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:145875000-145875400	Enhancers	Brain Angular Gyrus	brain
15	chr2:145875000-145875600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:145875200-145875400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:145875200-145875400	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:145875200-145876800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:145875200-145878800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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