Variant report

Variant	rs13420805
Chromosome Location	chr2:230997271-230997272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10498243	0.84[AFR][1000 genomes]
rs10933323	0.84[AFR][1000 genomes]
rs10933324	0.84[AFR][1000 genomes]
rs11894286	0.82[AFR][1000 genomes]
rs12694838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12694839	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12694840	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12694841	0.84[AFR][1000 genomes]
rs1529377	0.84[AFR][1000 genomes]
rs2894693	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4361119	0.84[AFR][1000 genomes]
rs6436908	0.84[EUR][1000 genomes]
rs6436909	0.81[AFR][1000 genomes]
rs6706782	0.84[AFR][1000 genomes]
rs6707129	0.84[AFR][1000 genomes]
rs6735404	0.84[AFR][1000 genomes]
rs7608556	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv875942	chr2:230959532-231008980	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875943	chr2:230960946-231027162	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:230992800-230999200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:230994000-230998800	Weak transcription	HSMMtube	muscle
3	chr2:230994200-230997400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:230994400-230998400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:230994400-230998400	Weak transcription	Spleen	Spleen
6	chr2:230994400-231000200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:230994600-231000200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:230995600-230998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:230995800-230997600	Enhancers	Lung	lung
10	chr2:230996000-230999000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:230996200-230999000	Weak transcription	Osteobl	bone
12	chr2:230996400-230998800	Weak transcription	HUVEC	blood vessel
13	chr2:230996400-230999000	Weak transcription	NHDF-Ad	bronchial
14	chr2:230996400-231002600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:230997000-230998400	Weak transcription	Adipose Nuclei	Adipose

Quick Search:

Input of quick search could be:

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

what's new

Quick links