Variant report

Variant	rs4588340
Chromosome Location	chr3:141496818-141496819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr3:141496651-141496827	HepG2	liver:	n/a	chr3:141496742-141496757

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141487899..141490249-chr3:141493907..141496843,2	MCF-7	breast:

Variant related genes	Relation type
GRK7	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11542226	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851689	1.00[JPT][hapmap]
rs16851691	1.00[JPT][hapmap]
rs16851704	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16851717	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs16851740	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17787772	0.82[JPT][hapmap]
rs1879284	0.80[EUR][1000 genomes]
rs1879285	0.80[EUR][1000 genomes]
rs1980192	0.80[EUR][1000 genomes]
rs2677426	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2681697	1.00[CHB][hapmap]
rs3773840	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4538350	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4586785	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57394236	0.82[EUR][1000 genomes]
rs57805567	0.82[EUR][1000 genomes]
rs57983026	0.80[EUR][1000 genomes]
rs58115387	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59998648	0.81[AFR][1000 genomes]
rs60317930	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61278509	0.82[EUR][1000 genomes]
rs61294533	0.82[EUR][1000 genomes]
rs61632965	0.81[AFR][1000 genomes]
rs6783647	0.80[EUR][1000 genomes]
rs6783736	0.80[EUR][1000 genomes]
rs72982481	0.88[EUR][1000 genomes]
rs73000336	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73872318	0.82[EUR][1000 genomes]
rs73872319	0.82[EUR][1000 genomes]
rs73872322	0.82[EUR][1000 genomes]
rs73872326	0.82[EUR][1000 genomes]
rs7632069	1.00[CEU][hapmap]
rs7642922	0.80[EUR][1000 genomes]
rs7643689	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789959	0.80[EUR][1000 genomes]
rs9789973	0.80[EUR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4588340	RNF7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141461800-141498200	Weak transcription	Right Ventricle	heart
2	chr3:141472000-141500800	Weak transcription	Thymus	Thymus
3	chr3:141487200-141497200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:141496400-141497000	Enhancers	Fetal Muscle Leg	muscle
5	chr3:141496800-141497800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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