Variant report

Variant	rs17708224
Chromosome Location	chr2:184114645-184114646
allele	A/C
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]
rs17707407	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17707482	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17707626	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17707992	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17758271	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17758295	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17758560	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17758692	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17758722	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17758734	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17758764	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17758808	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2045762	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2045763	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2705725	1.00[MEX][hapmap]
rs2705726	1.00[MEX][hapmap]
rs2887233	1.00[MEX][hapmap]
rs56724347	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58870754	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7601755	0.91[AMR][1000 genomes];0.91[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv3067	chr2:184079419-184119957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184113600-184116200	Enhancers	NHEK	skin
2	chr2:184114000-184115000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:184114000-184115400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:184114000-184116200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:184114000-184116200	Enhancers	HMEC	breast
6	chr2:184114200-184114800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:184114200-184116000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:184114600-184115000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:184114600-184115400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:184114600-184115400	Enhancers	Cortex derived primary cultured neurospheres	brain

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