Variant report

Variant	rs9784651
Chromosome Location	chr5:126827306-126827307
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10044579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10055438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10063245	0.80[ASN][1000 genomes]
rs10064653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17164825	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs60312557	0.88[ASN][1000 genomes]
rs6892265	0.97[ASN][1000 genomes]
rs7729354	0.84[CEU][hapmap]
rs7731486	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7732306	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7733544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9784651	MEGF10	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126826200-126827400	Enhancers	Fetal Intestine Small	intestine
3	chr5:126826600-126827600	Enhancers	Duodenum Mucosa	Duodenum
4	chr5:126826600-126827800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:126826800-126827400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:126826800-126827600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:126826800-126827600	Enhancers	Fetal Intestine Large	intestine
8	chr5:126826800-126828000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:126827000-126827400	Enhancers	Brain Anterior Caudate	brain
10	chr5:126827000-126827400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr5:126827000-126827600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126827000-126827600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:126827200-126828200	Weak transcription	Brain Cingulate Gyrus	brain

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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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