Variant report

Variant	rs40512
Chromosome Location	chr5:59805467-59805468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35385	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs40512	FLJ37543	cis	cerebellum	SCAN
rs40512	ERCC8	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59794800-59805800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:59801400-59813800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:59801800-59813000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:59802000-59805800	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:59802000-59806800	Enhancers	GM12878-XiMat	blood
6	chr5:59802200-59805600	Weak transcription	Brain Substantia Nigra	brain
7	chr5:59802200-59806000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:59802400-59812400	Weak transcription	Primary B cells from cord blood	blood
9	chr5:59803600-59807200	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:59803800-59805800	Weak transcription	Fetal Stomach	stomach
11	chr5:59804200-59815800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:59805200-59806600	Enhancers	Colon Smooth Muscle	Colon
13	chr5:59805200-59807000	Enhancers	Stomach Smooth Muscle	stomach
14	chr5:59805400-59806800	Enhancers	Fetal Muscle Leg	muscle

Quick Search:

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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