Variant report

Variant	rs17046424
Chromosome Location	chr2:55091793-55091794
allele	C/T
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:13)

rs_ID	r²[population]
rs10164992	1.00[ASN][1000 genomes]
rs10167789	1.00[ASN][1000 genomes]
rs10195230	1.00[ASN][1000 genomes]
rs10198957	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382720	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs13387512	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422312	1.00[ASN][1000 genomes]
rs62136943	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545451	0.80[AFR][1000 genomes]
rs6545452	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545455	1.00[ASN][1000 genomes]
rs6756000	0.81[AFR][1000 genomes]
rs7355428	1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1796192	chr2:55081033-55110969	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:55087000-55098600	Weak transcription	HepG2	liver
8	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:55088000-55096000	Weak transcription	Psoas Muscle	Psoas
10	chr2:55088200-55098800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:55090400-55092000	Enhancers	Liver	Liver
12	chr2:55091000-55091800	Enhancers	NHEK	skin
13	chr2:55091200-55092400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:55091600-55093000	Enhancers	Pancreatic Islets	Pancreatic Islet

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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