Variant report

Variant	rs967651
Chromosome Location	chr3:133173992-133173993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1317554	0.83[ASN][1000 genomes]
rs1479179	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1610172	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859683	1.00[JPT][hapmap]
rs6770037	0.85[JPT][hapmap]
rs7644197	0.85[ASN][1000 genomes]
rs7645387	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289446	0.92[AMR][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	nsv1007047	chr3:133137664-133181388	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1006289	chr3:133137664-133186808	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1829199	chr3:133158065-133213047	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv877505	chr3:133167363-133235272	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133161000-133191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:133165400-133178600	Weak transcription	Aorta	Aorta
3	chr3:133168200-133178800	Weak transcription	Fetal Kidney	kidney
4	chr3:133169400-133177400	Weak transcription	Thymus	Thymus
5	chr3:133169800-133179400	Weak transcription	GM12878-XiMat	blood
6	chr3:133170400-133177200	Weak transcription	Fetal Thymus	thymus
7	chr3:133171800-133174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:133172400-133175600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:133172400-133178400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:133172400-133178400	Weak transcription	Stomach Mucosa	stomach
11	chr3:133172600-133174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:133172600-133174600	Weak transcription	Placenta	Placenta
13	chr3:133172800-133174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:133173000-133178400	Weak transcription	HepG2	liver
15	chr3:133173200-133174400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:133173200-133174400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:133173200-133174600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:133173200-133177800	Weak transcription	A549	lung
19	chr3:133173400-133178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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