Variant report

Variant	rs4718301
Chromosome Location	chr7:65519896-65519897
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs160636	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs160645	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs160647	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2946580	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs313828	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs313830	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs400767	0.83[EUR][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4718301	GTF2IRD1P1	cis	Thyroid	GTEx
rs4718301	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs4718301	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs4718301	GS1-124K5.11	cis	Thyroid	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65516000-65520800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:65516400-65520000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:65516400-65520000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:65516400-65520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:65516600-65520000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:65516600-65520200	Weak transcription	Osteobl	bone
7	chr7:65516600-65520400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:65517200-65520200	Enhancers	GM12878-XiMat	blood
9	chr7:65517400-65520400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:65517400-65520800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:65517800-65520200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:65518800-65520200	Weak transcription	NH-A	brain
13	chr7:65519200-65520200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:65519400-65521000	Enhancers	NHDF-Ad	bronchial

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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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