Variant report

Variant	rs2058127
Chromosome Location	chr7:108231813-108231814
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10253210	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10282368	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1860118	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4730324	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv971141	chr7:108229374-108235129	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2058127	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108223000-108233200	Weak transcription	Small Intestine	intestine
2	chr7:108229200-108234400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:108229800-108234000	Enhancers	Fetal Intestine Small	intestine
4	chr7:108230000-108234000	Enhancers	Fetal Intestine Large	intestine
5	chr7:108230400-108233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:108230800-108233000	Weak transcription	Fetal Heart	heart
7	chr7:108230800-108233400	Weak transcription	HSMMtube	muscle
8	chr7:108230800-108233800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:108231000-108232200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:108231200-108233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:108231200-108233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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