Variant report

Variant	rs4680707
Chromosome Location	chr3:28785226-28785227
allele	A/C
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:11)

rs_ID	r²[population]
rs1461820	0.89[ASN][1000 genomes]
rs1585523	0.85[ASN][1000 genomes]
rs2085939	0.92[ASN][1000 genomes]
rs2199413	0.89[ASN][1000 genomes]
rs2219643	0.87[ASN][1000 genomes]
rs2371424	0.91[ASN][1000 genomes]
rs34386699	0.86[ASN][1000 genomes]
rs34666610	0.87[ASN][1000 genomes]
rs35908585	0.84[ASN][1000 genomes]
rs66917661	0.92[ASN][1000 genomes]
rs7624180	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001920	chr3:28711075-28788920	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv876651	chr3:28774258-28823156	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv590011	chr3:28780713-29044437	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28784600-28785600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr3:28784600-28786200	Enhancers	Fetal Muscle Leg	muscle
3	chr3:28784600-28786200	Enhancers	Left Ventricle	heart
4	chr3:28784600-28786600	Enhancers	Psoas Muscle	Psoas
5	chr3:28784600-28788400	Enhancers	Fetal Lung	lung
6	chr3:28784800-28786400	Enhancers	Fetal Stomach	stomach
7	chr3:28785000-28785400	Enhancers	Aorta	Aorta
8	chr3:28785000-28785600	Enhancers	Fetal Brain Male	brain
9	chr3:28785000-28785600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr3:28785000-28786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:28785000-28786200	Enhancers	Gastric	stomach
12	chr3:28785000-28786400	Enhancers	Liver	Liver
13	chr3:28785000-28787200	Enhancers	HSMMtube	muscle
14	chr3:28785000-28788000	Enhancers	NHEK	skin
15	chr3:28785200-28785400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr3:28785200-28787800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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