Variant report

Variant	rs283066
Chromosome Location	chr6:118620064-118620065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11758402	0.80[ASN][1000 genomes]
rs11968293	0.89[ASN][1000 genomes]
rs12212582	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1572226	0.89[ASN][1000 genomes]
rs1690662	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874081	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs188181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190756	0.86[ASN][1000 genomes]
rs281861	0.81[ASN][1000 genomes]
rs281864	0.81[ASN][1000 genomes]
rs281867	0.82[ASN][1000 genomes]
rs283040	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283042	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs283044	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs283045	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs283047	0.87[ASN][1000 genomes]
rs283048	0.82[AMR][1000 genomes]
rs283049	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283050	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs283051	0.87[ASN][1000 genomes]
rs283057	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283061	0.86[ASN][1000 genomes]
rs283062	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283067	0.87[ASN][1000 genomes]
rs369383	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376875	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs387266	0.84[ASN][1000 genomes]
rs387945	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397445	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs399844	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs413876	0.84[ASN][1000 genomes]
rs414091	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs419592	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs422268	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431115	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs445099	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs445566	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs450093	0.84[ASN][1000 genomes]
rs4946336	0.90[AFR][1000 genomes];0.93[AMR][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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118614400-118620200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:118617200-118620200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:118618600-118626800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:118618800-118621200	Enhancers	Rectal Smooth Muscle	rectum
5	chr6:118619000-118620200	Enhancers	Left Ventricle	heart
6	chr6:118619000-118620600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:118619000-118620600	Enhancers	NHLF	lung
8	chr6:118619000-118622400	Enhancers	Colon Smooth Muscle	Colon
9	chr6:118619200-118626400	Weak transcription	Aorta	Aorta
10	chr6:118619400-118621000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:118619400-118621600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:118620000-118621200	Enhancers	Fetal Stomach	stomach
13	chr6:118620000-118622000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:118620000-118622000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:118620000-118625200	Weak transcription	Fetal Heart	heart

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