Variant report

Variant	rs7598440
Chromosome Location	chr2:212793198-212793199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10172967	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10180494	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10205607	0.85[CEU][hapmap];0.85[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs10210841	0.88[ASN][1000 genomes]
rs13027169	0.88[ASN][1000 genomes]
rs2118892	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2165098	0.88[ASN][1000 genomes]
rs55866026	0.94[ASN][1000 genomes]
rs62184548	0.88[ASN][1000 genomes]
rs7578784	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7598440	RPE	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212788400-212795000	Weak transcription	Fetal Heart	heart
2	chr2:212791600-212794400	Enhancers	Brain Substantia Nigra	brain
3	chr2:212791600-212800200	Weak transcription	Aorta	Aorta
4	chr2:212792200-212793600	Enhancers	Brain Angular Gyrus	brain
5	chr2:212792200-212796600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:212792200-212796800	Enhancers	Dnd41	blood
7	chr2:212792400-212794000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:212792600-212796400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:212792800-212793400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr2:212792800-212793400	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr2:212792800-212793600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr2:212792800-212794400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:212792800-212794400	Enhancers	Thymus	Thymus
14	chr2:212793000-212793200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:212793000-212794400	Enhancers	Fetal Thymus	thymus

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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