Variant report

Variant	rs1480719
Chromosome Location	chr4:79960526-79960527
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	chr4:79959121..79962093-chr4:79967361..79969057,2	K562	blood:
2	chr4:79959717..79962130-chr4:79962284..79964886,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10518213	0.95[EUR][1000 genomes]
rs11723369	0.94[EUR][1000 genomes]
rs12499521	0.93[EUR][1000 genomes]
rs12643284	0.99[EUR][1000 genomes]
rs1350008	0.95[EUR][1000 genomes]
rs1378379	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1455299	0.95[EUR][1000 genomes]
rs1455305	0.93[EUR][1000 genomes]
rs1455306	0.93[EUR][1000 genomes]
rs1455307	0.93[EUR][1000 genomes]
rs1480735	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1480736	0.92[EUR][1000 genomes]
rs1480737	0.92[EUR][1000 genomes]
rs1480738	0.95[EUR][1000 genomes]
rs17003589	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17003625	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17003626	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs188253	0.96[EUR][1000 genomes]
rs188254	0.96[EUR][1000 genomes]
rs2016189	0.95[EUR][1000 genomes]
rs207020	0.96[EUR][1000 genomes]
rs2127782	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2127783	0.95[EUR][1000 genomes]
rs2604827	0.95[EUR][1000 genomes]
rs2604828	0.93[EUR][1000 genomes]
rs2604830	0.93[EUR][1000 genomes]
rs2604832	0.91[EUR][1000 genomes]
rs2604833	0.92[EUR][1000 genomes]
rs2604834	0.93[EUR][1000 genomes]
rs2622350	0.93[EUR][1000 genomes]
rs2622352	0.92[EUR][1000 genomes]
rs2622353	0.91[EUR][1000 genomes]
rs2622354	0.92[EUR][1000 genomes]
rs2622355	0.86[EUR][1000 genomes]
rs2622356	0.89[EUR][1000 genomes]
rs2622357	0.93[EUR][1000 genomes]
rs2622358	0.95[EUR][1000 genomes]
rs286448	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs286450	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs286452	0.98[EUR][1000 genomes]
rs286456	0.98[EUR][1000 genomes]
rs286457	0.98[EUR][1000 genomes]
rs286458	0.97[EUR][1000 genomes]
rs286459	0.88[EUR][1000 genomes]
rs286460	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs286461	0.96[EUR][1000 genomes]
rs286462	0.96[EUR][1000 genomes]
rs286463	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs286464	0.96[EUR][1000 genomes]
rs286465	0.96[EUR][1000 genomes]
rs286466	0.93[EUR][1000 genomes]
rs286467	0.93[EUR][1000 genomes]
rs286468	0.93[EUR][1000 genomes]
rs286473	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4320158	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55672352	0.95[EUR][1000 genomes]
rs56391107	0.95[EUR][1000 genomes]
rs62308747	0.95[EUR][1000 genomes]
rs62308748	0.95[EUR][1000 genomes]
rs62308749	0.93[EUR][1000 genomes]
rs62310026	0.88[EUR][1000 genomes]
rs6813045	0.95[EUR][1000 genomes]
rs6813727	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6825891	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6833006	0.95[EUR][1000 genomes]
rs6838863	0.95[EUR][1000 genomes]
rs7438158	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7685661	0.95[EUR][1000 genomes]
rs930834	1.00[CEU][hapmap];0.92[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs962169	0.95[EUR][1000 genomes]
rs9686053	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1010833	chr4:79945299-79964080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1480719	RCHY1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79959800-79964600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links