Variant report

Variant	rs680002
Chromosome Location	chr3:21936272-21936273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1679207	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs168948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259483	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs259493	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259496	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259497	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259506	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs259524	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259525	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259529	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs259535	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs259551	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs259552	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs259558	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs259559	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs672930	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv834632	chr3:21803941-21974082	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003085	chr3:21887971-22415107	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv834633	chr3:21918264-22088338	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv876614	chr3:21919039-21994022	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv998906	chr3:21921707-21962293	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1014821	chr3:21929218-21962293	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21930800-21940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21935800-21936400	Enhancers	Fetal Kidney	kidney
3	chr3:21936200-21936400	Enhancers	Fetal Lung	lung
4	chr3:21936200-21936400	Enhancers	HSMMtube	muscle
5	chr3:21936200-21936600	Enhancers	Fetal Brain Female	brain
6	chr3:21936200-21936800	Enhancers	Fetal Heart	heart

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