Variant report

Variant	rs6749448
Chromosome Location	chr2:212607990-212607991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12620444	1.00[CHB][hapmap]
rs12620559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12622176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13035133	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs35444377	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4130781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4130782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4132462	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55758468	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55769536	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55897719	0.91[EUR][1000 genomes]
rs56405287	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61079605	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182986	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182989	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62182991	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62182999	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183021	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62183023	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183024	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183028	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183029	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183031	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6435670	0.83[CHD][hapmap]
rs6745717	1.00[CHD][hapmap]
rs6756725	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72946582	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72948506	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7422793	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7556896	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564414	1.00[JPT][hapmap]
rs7600261	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7601502	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6749448	ERBB4	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212606800-212609000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212607000-212608000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:212607000-212608000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:212607600-212610000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:212607800-212608000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:212607800-212608400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:212607800-212608600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:212607800-212608800	Enhancers	Fetal Heart	heart
9	chr2:212607800-212609600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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