Variant report

Variant	rs696572
Chromosome Location	chr2:189585466-189585467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10175840	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12328188	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13425664	1.00[AMR][1000 genomes]
rs1922803	0.80[AFR][1000 genomes]
rs4667252	1.00[YRI][hapmap]
rs696571	1.00[AMR][1000 genomes]
rs698569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781252	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781265	1.00[AFR][1000 genomes]
rs781266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781455	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1842768	chr2:189555506-189635696	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189585000-189590800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:189585200-189585600	Weak transcription	Fetal Lung	lung
3	chr2:189585200-189586200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:189585200-189591200	Weak transcription	H9 Derived Neuron Cultured 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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