Variant report

Variant	rs35386
Chromosome Location	chr5:59802783-59802784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs149324	0.87[TSI][hapmap]
rs152312	0.80[CHB][hapmap]
rs173591	0.81[CHB][hapmap]
rs251726	0.81[CHB][hapmap]
rs26951	0.81[CHB][hapmap]
rs26955	0.99[ASN][1000 genomes]
rs26956	0.88[ASN][1000 genomes]
rs27221	0.99[ASN][1000 genomes]
rs27223	0.87[TSI][hapmap]
rs27653	0.99[ASN][1000 genomes]
rs35381	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35387	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37761	0.84[CHB][hapmap]
rs37762	0.81[CHB][hapmap]
rs40219	0.81[CHB][hapmap]
rs42448	0.99[ASN][1000 genomes]
rs457053	0.88[ASN][1000 genomes]
rs702554	0.81[CHB][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35386	mimitin	cis	multi-tissue	Pritchard
rs35386	ERCC8	cis	multi-tissue	Pritchard
rs35386	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59794800-59803800	Weak transcription	Osteobl	bone
2	chr5:59794800-59805800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:59800000-59803400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:59800400-59803200	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:59801000-59804400	Enhancers	Fetal Brain Male	brain
6	chr5:59801400-59813800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:59801800-59805400	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:59801800-59813000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:59802000-59803800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:59802000-59805800	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:59802000-59806800	Enhancers	GM12878-XiMat	blood
12	chr5:59802200-59805200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:59802200-59805600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:59802200-59806000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:59802400-59803800	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:59802400-59812400	Weak transcription	Primary B cells from cord blood	blood

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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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