Variant report

Variant	rs4851262
Chromosome Location	chr2:100796248-100796249
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100793774..100796720-chr2:100799072..100801535,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11123808	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11677607	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11679078	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11680485	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11680586	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11682173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11686599	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11689956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692215	0.89[EUR][1000 genomes]
rs11902705	0.81[ASN][1000 genomes]
rs12712067	0.85[YRI][hapmap]
rs12712069	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12712072	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13000759	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13010436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011181	0.85[EUR][1000 genomes]
rs13011874	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13019618	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13022707	0.85[EUR][1000 genomes]
rs13028981	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748927	0.83[EUR][1000 genomes]
rs4850920	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4850921	0.85[YRI][hapmap]
rs4851254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56054309	0.81[ASN][1000 genomes]
rs6713524	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7583067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596385	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4851262	MGAT4A	cis	parietal	SCAN
rs4851262	SNRNP200	cis	parietal	SCAN
rs4851262	AFF3	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100791000-100809000	Weak transcription	Right Atrium	heart
2	chr2:100794600-100797200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:100795000-100799000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:100795200-100798600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:100795200-100799000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:100796000-100797000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:100796200-100796800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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