Variant report

Variant	rs1519980
Chromosome Location	chr2:76897972-76897973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11126550	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11126551	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12472972	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1519981	0.80[AMR][1000 genomes]
rs66503643	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67177729	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67302681	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs985343	0.80[AMR][1000 genomes];0.88[EUR][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	nsv582235	chr2:76881210-76997763	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1006275	chr2:76885103-76929056	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1002822	chr2:76885103-76940701	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1519980	C2orf7	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76892600-76902400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76894600-76898000	Enhancers	Fetal Brain Female	brain
3	chr2:76894800-76898400	Enhancers	Fetal Brain Male	brain
4	chr2:76894800-76898600	Enhancers	Fetal Lung	lung
5	chr2:76896000-76898000	Enhancers	Fetal Heart	heart
6	chr2:76896000-76899400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:76897800-76898600	Enhancers	Duodenum Mucosa	Duodenum

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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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