Variant report

Variant	rs2321287
Chromosome Location	chr2:134546741-134546742
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10193797	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10928460	0.85[ASN][1000 genomes]
rs10928461	0.85[ASN][1000 genomes]
rs12464809	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12466546	0.85[ASN][1000 genomes]
rs13393309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13427527	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13429336	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16829491	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17768541	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17819620	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1992783	0.81[CHB][hapmap]
rs34163450	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61542977	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6709830	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6740472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6754879	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72843280	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2321287	CCNT2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134538200-134547600	Weak transcription	Fetal Heart	heart
2	chr2:134542800-134547600	Weak transcription	HUVEC	blood vessel
3	chr2:134544000-134549400	Enhancers	Osteobl	bone
4	chr2:134544600-134546800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134544600-134549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:134544600-134549800	Enhancers	NHDF-Ad	bronchial
7	chr2:134544800-134546800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:134544800-134549600	Enhancers	NHLF	lung
9	chr2:134545000-134557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:134546000-134547200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:134546000-134547400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:134546200-134548200	Weak transcription	NH-A	brain
13	chr2:134546200-134548400	Weak transcription	HSMM	muscle
14	chr2:134546400-134548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:134546600-134547400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:134546600-134548000	Weak transcription	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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