Variant report

Variant	rs12648946
Chromosome Location	chr4:55802880-55802881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10014134	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026756	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133349	1.00[ASN][1000 genomes]
rs1119544	1.00[ASN][1000 genomes]
rs1119545	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722896	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725129	1.00[ASN][1000 genomes]
rs11732198	1.00[ASN][1000 genomes]
rs11732768	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734032	1.00[ASN][1000 genomes]
rs11737870	1.00[ASN][1000 genomes]
rs12639867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12639878	0.97[EUR][1000 genomes]
rs12643767	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646789	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646878	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647496	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648485	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649626	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13135562	1.00[CHB][hapmap]
rs1497480	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497490	1.00[ASN][1000 genomes]
rs1497500	1.00[ASN][1000 genomes]
rs17084864	1.00[ASN][1000 genomes]
rs17084965	1.00[ASN][1000 genomes]
rs17085031	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085085	0.81[EUR][1000 genomes]
rs1874651	1.00[ASN][1000 genomes]
rs2088401	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435700	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34948390	1.00[ASN][1000 genomes]
rs56288580	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491061	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59049699	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59527347	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317592	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66857866	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67682137	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68139100	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833710	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851808	1.00[ASN][1000 genomes]
rs73143580	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234251	1.00[ASN][1000 genomes]
rs73234252	1.00[ASN][1000 genomes]
rs73234255	1.00[ASN][1000 genomes]
rs73234258	1.00[ASN][1000 genomes]
rs73234260	1.00[ASN][1000 genomes]
rs73234262	1.00[ASN][1000 genomes]
rs73234264	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234265	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234268	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234269	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234271	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234272	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234273	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234275	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234276	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234277	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663862	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682627	1.00[ASN][1000 genomes]
rs7690257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904130	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904132	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904133	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969341	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1010982	chr4:55802123-55808403	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55796800-55810200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:55801200-55803600	Weak transcription	Stomach Mucosa	stomach
3	chr4:55801600-55804400	Enhancers	HUVEC	blood vessel
4	chr4:55802400-55803400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:55802400-55803600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:55802400-55803600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:55802600-55803600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:55802600-55807600	Weak transcription	Fetal Stomach	stomach
9	chr4:55802600-55808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:55802800-55803200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:55802800-55803600	Weak transcription	Primary hematopoietic stem cells	blood

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