Variant report

Variant	rs1399691
Chromosome Location	chr2:180575531-180575532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13405414	0.89[CEU][hapmap];0.94[TSI][hapmap]
rs17824558	1.00[AFR][1000 genomes]
rs17824619	1.00[AFR][1000 genomes]
rs4894119	1.00[CEU][hapmap]
rs4894122	1.00[ASW][hapmap];1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180571600-180577600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180572600-180582200	Weak transcription	Right Atrium	heart
3	chr2:180573000-180576000	Weak transcription	Gastric	stomach
4	chr2:180573200-180576800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr2:180574000-180576400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:180575200-180576000	Enhancers	Placenta	Placenta
7	chr2:180575400-180576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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