Variant report

Variant	rs9479642
Chromosome Location	chr6:150414026-150414027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1953321	0.87[ASN][1000 genomes]
rs59567523	0.80[ASN][1000 genomes]
rs6915233	0.86[ASN][1000 genomes]
rs6931545	0.90[ASN][1000 genomes]
rs6932103	0.90[ASN][1000 genomes]
rs6940563	0.90[ASN][1000 genomes]
rs73603909	0.87[ASN][1000 genomes]
rs7761921	0.91[ASN][1000 genomes]
rs7769307	0.91[ASN][1000 genomes]
rs7769319	0.91[ASN][1000 genomes]
rs7773817	0.91[ASN][1000 genomes]
rs7774282	0.91[ASN][1000 genomes]
rs7774298	0.90[ASN][1000 genomes]
rs9479640	0.91[ASN][1000 genomes]
rs9479641	1.00[ASN][1000 genomes]
rs9479648	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv886770	chr6:150395424-150499889	Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1016239	chr6:150407607-150424171	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1024915	chr6:150407607-150425510	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv886771	chr6:150411442-150437749	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763601	chr6:150412587-150425522	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9479642	MRE11A	trans	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150410400-150421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150410600-150414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:150412400-150416200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:150413000-150414200	Weak transcription	Fetal Brain Female	brain
5	chr6:150413000-150414400	Weak transcription	Brain Anterior Caudate	brain
6	chr6:150413000-150414400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:150413000-150414600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:150413000-150414600	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:150413000-150414600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:150413000-150414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:150413200-150414400	Weak transcription	Fetal Brain Male	brain
12	chr6:150413200-150414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:150413200-150414600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:150413400-150415800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:150413800-150414600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:150413800-150414600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:150413800-150416200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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