Variant report

Variant	rs4683797
Chromosome Location	chr3:139813731-139813732
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12486848	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs12630269	0.90[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16849828	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs16849851	0.95[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1878978	0.90[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1878979	0.90[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2882428	0.89[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4368461	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4568079	0.80[CEU][hapmap]
rs7652623	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv829738	chr3:139670836-139851945	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv877545	chr3:139738645-139821310	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139810000-139813800	Enhancers	Fetal Muscle Leg	muscle
2	chr3:139810000-139814600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:139812200-139813800	Enhancers	Psoas Muscle	Psoas
4	chr3:139812400-139813800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:139812600-139819600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:139812600-139820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:139813000-139813800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:139813200-139817600	Weak transcription	Fetal Brain Male	brain
9	chr3:139813200-139817600	Weak transcription	Fetal Brain Female	brain
10	chr3:139813400-139814600	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:139813600-139813800	Enhancers	Ovary	ovary
12	chr3:139813600-139814800	Enhancers	Brain Germinal Matrix	brain
13	chr3:139813600-139816600	Weak transcription	HSMMtube	muscle

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

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