Variant report

Variant	rs4886118
Chromosome Location	chr13:53616557-53616558
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12584280	0.88[ASW][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap]
rs9536346	0.85[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4886118	ABLIM1	trans	lymphoblastoid	seeQTL
rs4886118	RB1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53601200-53620000	Weak transcription	Spleen	Spleen
2	chr13:53601400-53617000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:53603200-53619000	Weak transcription	Pancreas	Pancrea
4	chr13:53609000-53626400	Weak transcription	Small Intestine	intestine
5	chr13:53610800-53628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr13:53615000-53619200	Weak transcription	Adipose Nuclei	Adipose
7	chr13:53616000-53620600	Enhancers	Fetal Muscle Leg	muscle
8	chr13:53616200-53616600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:53616200-53616600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr13:53616400-53617200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:53616400-53618400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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