Variant report

Variant	rs4689768
Chromosome Location	chr4:7509331-7509332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1016202	1.00[ASN][1000 genomes]
rs1075760	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10804998	1.00[ASN][1000 genomes]
rs10937821	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11730684	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12506309	1.00[MEX][hapmap]
rs12506514	1.00[CHD][hapmap]
rs13119122	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13130816	1.00[ASN][1000 genomes]
rs13137137	1.00[ASN][1000 genomes]
rs13144220	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34340585	1.00[ASN][1000 genomes]
rs35986566	1.00[ASN][1000 genomes]
rs4403049	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4406019	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4591606	0.90[EUR][1000 genomes]
rs4613570	1.00[JPT][hapmap]
rs4689131	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4689134	1.00[ASN][1000 genomes]
rs4689766	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4689767	0.89[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4689769	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689771	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728260	1.00[ASN][1000 genomes]
rs56063650	1.00[ASN][1000 genomes]
rs62277652	1.00[ASN][1000 genomes]
rs62280183	1.00[ASN][1000 genomes]
rs6857793	0.89[MEX][hapmap]
rs71647607	0.84[AMR][1000 genomes]
rs744356	1.00[CHD][hapmap]
rs750136	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7656523	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs7670574	0.85[AMR][1000 genomes]
rs7675750	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7675968	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7685329	1.00[JPT][hapmap]
rs7693992	1.00[JPT][hapmap]
rs9997284	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv878563	chr4:7420785-7529367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878564	chr4:7421007-7535214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878566	chr4:7456717-7529367	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv878567	chr4:7456717-7544610	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv878568	chr4:7490246-7529367	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv878569	chr4:7496857-7544610	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4689768	ABLIM2	cis	parietal	SCAN
rs4689768	KIAA0232	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7502200-7511000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:7506000-7510800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:7508200-7512800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:7508400-7510400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:7508600-7510800	Weak transcription	Brain Germinal Matrix	brain
6	chr4:7508800-7515800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:7509000-7509600	Enhancers	Ovary	ovary
8	chr4:7509200-7509600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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