Variant report

Variant	rs11101416
Chromosome Location	chr10:49865727-49865728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10857616	0.86[ASN][1000 genomes]
rs12257645	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2377595	0.83[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2377596	0.87[ASN][1000 genomes]
rs2377612	0.94[ASN][1000 genomes]
rs2377613	0.94[ASN][1000 genomes]
rs2377614	0.94[ASN][1000 genomes]
rs2377615	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2377616	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2377618	0.89[EUR][1000 genomes]
rs4240515	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4373841	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4375365	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4525142	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4562728	0.85[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs7087882	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7087885	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7911516	0.89[EUR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11101416	FRMPD2	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49865000-49866000	Weak transcription	Brain Hippocampus Middle	brain
2	chr10:49865000-49866400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:49865200-49866200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:49865200-49866400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:49865200-49866400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:49865200-49866400	Weak transcription	Brain Anterior Caudate	brain
7	chr10:49865200-49866400	Weak transcription	Esophagus	oesophagus
8	chr10:49865200-49866400	Weak transcription	HUVEC	blood vessel
9	chr10:49865200-49866800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:49865200-49879200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:49865400-49865800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr10:49865400-49866000	Weak transcription	Brain Substantia Nigra	brain
13	chr10:49865600-49866000	Weak transcription	Primary B cells from peripheral blood	blood

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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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