Variant report

Variant	rs4698790
Chromosome Location	chr4:110727560-110727561
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110724812..110728911-chr4:110730126..110732446,4	K562	blood:
2	chr4:110719468..110721145-chr4:110726862..110728503,2	K562	blood:
3	chr4:110721886..110724485-chr4:110725878..110728295,2	K562	blood:
4	chr4:110725244..110727161-chr4:110727468..110730412,2	MCF-7	breast:
5	chr4:110651364..110653431-chr4:110726828..110728749,2	K562	blood:

Variant related genes	Relation type
ENSG00000205403	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1000954	0.85[CEU][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs10016598	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10024583	0.81[CHB][hapmap]
rs10049804	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10857001	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11098046	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11726234	0.88[EUR][1000 genomes]
rs11734208	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs12498247	0.80[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs12499926	0.89[EUR][1000 genomes]
rs12506605	0.86[EUR][1000 genomes]
rs12508074	0.88[EUR][1000 genomes]
rs12512308	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs13108145	0.86[ASN][1000 genomes]
rs13129180	0.86[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs28880991	0.88[EUR][1000 genomes]
rs4298142	0.81[CHB][hapmap]
rs4299581	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339213	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4371619	0.86[EUR][1000 genomes]
rs4404543	0.87[ASN][1000 genomes]
rs4600912	0.86[EUR][1000 genomes]
rs4698784	0.84[CHD][hapmap]
rs4698792	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62324937	0.88[EUR][1000 genomes]
rs6815517	0.85[CEU][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs6841303	0.91[AMR][1000 genomes]
rs72674894	0.85[EUR][1000 genomes]
rs72674895	0.88[EUR][1000 genomes]
rs72674896	0.88[EUR][1000 genomes]
rs7438961	0.84[CHD][hapmap]
rs7439356	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs7440009	0.88[AMR][1000 genomes]
rs7442601	0.81[ASN][1000 genomes]
rs7659870	0.89[EUR][1000 genomes]
rs7671905	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7675460	0.83[CHD][hapmap]
rs884711	0.81[CHB][hapmap]
rs9654197	0.90[EUR][1000 genomes];0.84[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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Fasting insulin (interaction)	24204828	GWAS catalog
Homeostasis model assessment of insulin resistance (interaction)	24204828	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4698790	RRH	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110722600-110736200	Weak transcription	Pancreas	Pancrea
2	chr4:110722800-110735800	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:110724400-110735800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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