Variant report

Variant	rs651430
Chromosome Location	chr7:99429843-99429844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2572022	0.87[ASW][hapmap]
rs474229	0.87[ASW][hapmap]
rs522415	0.88[CEU][hapmap];0.87[GIH][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs523265	0.81[EUR][1000 genomes]
rs533486	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs800672	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs651430	TRIM4	cis	Esophagus Mucosa	GTEx
rs651430	CYP3A4	cis	Nerve Tibial	GTEx
rs651430	OR2AE1	cis	cerebellum	SCAN
rs651430	OR2AE1	cis	parietal	SCAN
rs651430	TRIM4	cis	multi-tissue	Pritchard
rs651430	TRIM4	cis	parietal	SCAN
rs651430	ORAI2	cis	parietal	SCAN
rs651430	TRIM4	cis	normal skin	skin_eQTL
rs651430	TRIM4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99419400-99432200	Enhancers	Fetal Intestine Small	intestine
2	chr7:99419600-99432000	Enhancers	Fetal Intestine Large	intestine
3	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:99424200-99430400	Enhancers	K562	blood
5	chr7:99427600-99432600	Enhancers	HepG2	liver
6	chr7:99427600-99435400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:99427800-99431800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:99428600-99432800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:99428800-99430000	Enhancers	Pancreas	Pancrea
10	chr7:99428800-99435000	Weak transcription	Stomach Mucosa	stomach
11	chr7:99429200-99430000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:99429600-99431800	Enhancers	Liver	Liver
13	chr7:99429600-99435000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:99429800-99435200	Weak transcription	H1 BMP4 Derived Mesendoderm 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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