Variant report

Variant	rs7697040
Chromosome Location	chr4:80565652-80565653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10857104	0.83[ASN][1000 genomes]
rs12643010	0.88[AMR][1000 genomes]
rs17004052	0.88[AMR][1000 genomes]
rs56190714	0.85[ASN][1000 genomes]
rs62297622	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62297626	0.85[ASN][1000 genomes]
rs62297627	0.85[ASN][1000 genomes]
rs7340792	0.83[ASN][1000 genomes]
rs73828504	0.88[AMR][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	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1005152	chr4:80549659-80814456	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7697040	LINC00989	cis	Skin Sun Exposed Lower leg	GTEx
rs7697040	LINC00989	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80555600-80566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:80555600-80566800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:80559600-80566600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:80563200-80566600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:80563600-80571800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:80565200-80566400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:80565600-80565800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

Quick Search:

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

what's new

Quick links