Variant report

Variant	rs11676052
Chromosome Location	chr2:7349232-7349233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1525495	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1608835	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1917679	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1980339	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2056636	0.82[ASN][1000 genomes]
rs2222611	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669151	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669152	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6431860	0.91[ASN][1000 genomes]
rs6431861	0.91[ASN][1000 genomes]
rs6756970	0.89[ASN][1000 genomes]
rs7586851	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1000136	chr2:7337270-7379211	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv833337	chr2:7337273-7521146	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11676052	PDIA6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7342400-7349600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:7345200-7349800	Weak transcription	Lung	lung
3	chr2:7348200-7350200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:7348600-7349800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:7348600-7349800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:7348600-7349800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:7348800-7349800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:7349200-7349400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:7349200-7350400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:7349200-7350600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:7349200-7351200	Enhancers	H1 Derived Mesenchymal Stem 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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