Variant report

Variant	rs41321248
Chromosome Location	chr3:144079705-144079706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56247328	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58251505	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60683417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440244	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6762994	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6781500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6786131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6806034	0.81[AMR][1000 genomes]
rs6806051	0.81[AMR][1000 genomes]
rs73873246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73873255	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73873256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73873257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7622410	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7631147	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv877570	chr3:143853149-144123401	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011685	chr3:143959237-144218424	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv536751	chr3:143959237-144218424	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144074400-144081000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:144077600-144082800	Weak transcription	Fetal Heart	heart
3	chr3:144079200-144080200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:144079200-144080400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:144079200-144082400	Enhancers	Dnd41	blood
6	chr3:144079400-144080800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:144079600-144080000	Enhancers	HSMM	muscle
8	chr3:144079600-144081400	Enhancers	NHEK	skin

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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

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