Variant report

Variant	rs286450
Chromosome Location	chr4:79966731-79966732
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	chr4:79963103..79964922-chr4:79966258..79968873,2	K562	blood:
2	chr4:79962355..79964603-chr4:79966690..79968873,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10518213	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11723369	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12499521	0.94[EUR][1000 genomes]
rs12643284	1.00[EUR][1000 genomes]
rs1350008	0.96[EUR][1000 genomes]
rs1378379	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1455299	0.96[EUR][1000 genomes]
rs1455305	0.94[EUR][1000 genomes]
rs1455306	0.94[EUR][1000 genomes]
rs1455307	0.94[EUR][1000 genomes]
rs1480719	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1480735	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1480736	0.93[EUR][1000 genomes]
rs1480737	0.93[EUR][1000 genomes]
rs1480738	0.96[EUR][1000 genomes]
rs17003589	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17003625	0.96[EUR][1000 genomes]
rs17003626	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs188253	0.95[EUR][1000 genomes]
rs188254	0.95[EUR][1000 genomes]
rs2016189	0.96[EUR][1000 genomes]
rs207020	0.95[EUR][1000 genomes]
rs2127782	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2127783	0.96[EUR][1000 genomes]
rs2604827	0.96[EUR][1000 genomes]
rs2604828	0.94[EUR][1000 genomes]
rs2604830	0.94[EUR][1000 genomes]
rs2604832	0.92[EUR][1000 genomes]
rs2604833	0.93[EUR][1000 genomes]
rs2604834	0.94[EUR][1000 genomes]
rs2622350	0.94[EUR][1000 genomes]
rs2622352	0.93[EUR][1000 genomes]
rs2622353	0.92[EUR][1000 genomes]
rs2622354	0.93[EUR][1000 genomes]
rs2622355	0.87[EUR][1000 genomes]
rs2622356	0.90[EUR][1000 genomes]
rs2622357	0.94[EUR][1000 genomes]
rs2622358	0.96[EUR][1000 genomes]
rs286448	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs286452	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs286456	0.99[EUR][1000 genomes]
rs286457	0.99[EUR][1000 genomes]
rs286458	0.98[EUR][1000 genomes]
rs286459	0.89[EUR][1000 genomes]
rs286460	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs286461	0.97[EUR][1000 genomes]
rs286462	0.95[EUR][1000 genomes]
rs286463	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286464	0.95[EUR][1000 genomes]
rs286465	0.95[EUR][1000 genomes]
rs286466	0.94[EUR][1000 genomes]
rs286467	0.94[EUR][1000 genomes]
rs286468	0.94[EUR][1000 genomes]
rs286473	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4320158	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55672352	0.96[EUR][1000 genomes]
rs56391107	0.96[EUR][1000 genomes]
rs62308747	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62308748	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62308749	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62310026	0.87[EUR][1000 genomes]
rs6813045	0.96[EUR][1000 genomes]
rs6813727	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6825891	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6833006	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6838863	0.96[EUR][1000 genomes]
rs7438158	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7685661	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs930834	0.96[EUR][1000 genomes]
rs962169	0.96[EUR][1000 genomes]
rs9686053	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3448470	chr4:79898340-80026510	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv432614	chr4:79910989-79993822	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79964600-79970000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:79965200-79967000	Weak transcription	Fetal Heart	heart
3	chr4:79965600-79967000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:79965600-79967200	Weak transcription	Fetal Brain Male	brain
5	chr4:79965600-79969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:79965600-79970000	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:79965600-79973200	Weak transcription	K562	blood
8	chr4:79965800-79967800	Enhancers	Fetal Stomach	stomach
9	chr4:79966000-79967000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:79966200-79967000	Enhancers	Stomach Smooth Muscle	stomach
11	chr4:79966200-79967200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:79966200-79970200	Weak transcription	Brain Substantia Nigra	brain

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