Variant report

Variant	rs2676072
Chromosome Location	chr15:33598211-33598212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12148576	0.99[ASN][1000 genomes]
rs2670942	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2670945	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2670946	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2670947	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2676071	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2676073	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2676075	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2676077	0.92[ASN][1000 genomes]
rs2676084	0.90[ASN][1000 genomes]
rs907953	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv482299	chr15:33449137-33624122	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv533346	chr15:33469439-33809641	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832963	chr15:33514798-33712442	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2676072	RP11-489D6.2	cis	Muscle Skeletal	GTEx
rs2676072	RP11-489D6.2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33596400-33601600	Weak transcription	Aorta	Aorta
2	chr15:33597000-33602200	Weak transcription	Brain Anterior Caudate	brain
3	chr15:33597200-33598400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr15:33597800-33598400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr15:33597800-33598400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr15:33597800-33602200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:33597800-33602200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:33598200-33598400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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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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