Variant report

Variant	rs2362598
Chromosome Location	chr7:78072702-78072703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10228924	0.97[AFR][1000 genomes]
rs10485889	0.92[TSI][hapmap]
rs12670815	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs17352924	0.92[TSI][hapmap]
rs17430936	0.92[TSI][hapmap]
rs17431866	0.92[TSI][hapmap]
rs2885552	0.83[ASW][hapmap]
rs4498477	0.97[AFR][1000 genomes]
rs4501511	0.97[AFR][1000 genomes]
rs4515471	0.83[ASW][hapmap]
rs4548111	0.99[EUR][1000 genomes]
rs4727702	0.89[CHB][hapmap]
rs5003961	0.83[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7795283	0.92[TSI][hapmap]
rs7808944	0.92[TSI][hapmap]
rs990527	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78067000-78079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:78071000-78073600	Enhancers	Brain Anterior Caudate	brain
3	chr7:78071200-78072800	Enhancers	Brain Angular Gyrus	brain
4	chr7:78071200-78072800	Enhancers	Brain Hippocampus Middle	brain
5	chr7:78071400-78073000	Enhancers	Brain Substantia Nigra	brain
6	chr7:78071400-78073600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:78071600-78072800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:78071600-78073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:78072200-78073200	Enhancers	Fetal Heart	heart
10	chr7:78072400-78073200	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:78072600-78072800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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