Variant report

Variant	rs6724854
Chromosome Location	chr2:134083941-134083942
allele	A/G
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:14)

rs_ID	r²[population]
rs10469580	0.88[EUR][1000 genomes]
rs10928450	0.93[EUR][1000 genomes]
rs10928451	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11884182	0.87[EUR][1000 genomes]
rs12619465	0.99[ASN][1000 genomes]
rs13392963	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13409478	0.97[ASN][1000 genomes]
rs1430166	0.81[AFR][1000 genomes]
rs2115864	0.88[EUR][1000 genomes]
rs28415460	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4588241	0.89[EUR][1000 genomes]
rs56212259	0.98[ASN][1000 genomes]
rs6724865	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9808364	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1003964	chr2:134039363-134088319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1014718	chr2:134067133-134151633	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134070400-134094600	Weak transcription	NHEK	skin
2	chr2:134080600-134084600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:134081000-134084000	Enhancers	Hela-S3	cervix
4	chr2:134081000-134084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:134081000-134085200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:134081000-134087000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:134081200-134085000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:134081200-134085000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:134081400-134084200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:134081400-134084800	Enhancers	Osteobl	bone
11	chr2:134082200-134084600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:134082800-134084200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:134083400-134084200	Enhancers	A549	lung
14	chr2:134083400-134084200	Weak transcription	NHLF	lung
15	chr2:134083400-134090400	Weak transcription	NHDF-Ad	bronchial
16	chr2:134083800-134084200	Weak transcription	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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