Variant report

Variant	rs1482088
Chromosome Location	chr4:86559173-86559174
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10000472	0.81[GIH][hapmap]
rs1031988	0.81[GIH][hapmap]
rs12504294	0.81[GIH][hapmap]
rs12506009	0.81[GIH][hapmap]
rs12506596	0.81[GIH][hapmap]
rs12640411	0.81[GIH][hapmap]
rs12644260	0.81[GIH][hapmap]
rs1384132	0.81[GIH][hapmap]
rs1384134	0.83[GIH][hapmap]
rs1384135	0.81[GIH][hapmap]
rs17389300	0.81[GIH][hapmap]
rs4693122	0.81[GIH][hapmap]
rs4693716	0.81[GIH][hapmap]
rs7673464	0.95[CHB][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9760558	1.00[ASW][hapmap]
rs9884932	0.81[GIH][hapmap]

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	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1482088	ARHGAP24	Cis_1M	lymphoblastoid	RTeQTL
rs1482088	TIGD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86525600-86559200	Weak transcription	HSMM	muscle
2	chr4:86551400-86575200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:86551800-86561200	Weak transcription	Left Ventricle	heart
4	chr4:86551800-86569600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:86556600-86560800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:86557600-86561600	Strong transcription	Primary B cells from cord blood	blood
7	chr4:86558600-86559800	Enhancers	HSMMtube	muscle
8	chr4:86558800-86561800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:86559000-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:86559000-86560200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:86559000-86561000	Enhancers	K562	blood

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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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