Variant report

Variant	rs2342599
Chromosome Location	chr3:99247075-99247076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10514745	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10935829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929322	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12486853	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12488756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12493715	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16841332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17775122	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs56300575	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66797762	0.95[AFR][1000 genomes]
rs67838133	0.92[AFR][1000 genomes]
rs72926449	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72926450	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72926452	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644179	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs938210	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953512	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3422853	chr3:99208019-99342748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:99242600-99254000	Weak transcription	HUVEC	blood vessel
2	chr3:99243400-99248400	Weak transcription	NHDF-Ad	bronchial
3	chr3:99243400-99251000	Weak transcription	Osteobl	bone
4	chr3:99243600-99247800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:99246200-99254200	Weak transcription	NHLF	lung
6	chr3:99246400-99248600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:99246400-99248800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:99246600-99262000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:99246800-99248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:99246800-99249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:99247000-99248200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:99247000-99248800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:99247000-99248800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:99247000-99248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:99247000-99251000	Weak transcription	Aorta	Aorta

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