Variant report

Variant	rs2662760
Chromosome Location	chr4:121228154-121228155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1355112	0.81[ASN][1000 genomes]
rs1396534	0.82[ASN][1000 genomes]
rs1396536	0.81[ASN][1000 genomes]
rs1508999	0.81[ASN][1000 genomes]
rs2036694	0.81[ASN][1000 genomes]
rs2036695	0.93[ASN][1000 genomes]
rs2036696	0.93[ASN][1000 genomes]
rs2662702	0.82[ASN][1000 genomes]
rs2662704	0.88[ASN][1000 genomes]
rs2662706	0.82[ASN][1000 genomes]
rs2662708	0.88[ASN][1000 genomes]
rs2662709	0.88[ASN][1000 genomes]
rs2662715	0.94[ASN][1000 genomes]
rs2662720	0.95[ASN][1000 genomes]
rs2662721	0.94[ASN][1000 genomes]
rs2662722	0.82[ASN][1000 genomes]
rs2662724	0.81[ASN][1000 genomes]
rs2662727	0.82[ASN][1000 genomes]
rs2662730	0.81[ASN][1000 genomes]
rs2662731	0.93[ASN][1000 genomes]
rs2662732	0.81[ASN][1000 genomes]
rs2662735	0.84[ASN][1000 genomes]
rs2662738	0.84[ASN][1000 genomes]
rs2662739	0.84[ASN][1000 genomes]
rs2662741	0.93[ASN][1000 genomes]
rs2662742	0.81[ASN][1000 genomes]
rs2662743	0.93[ASN][1000 genomes]
rs2662747	0.84[ASN][1000 genomes]
rs2693755	0.95[ASN][1000 genomes]
rs2693756	0.94[ASN][1000 genomes]
rs2693757	0.83[ASN][1000 genomes]
rs2693758	0.94[ASN][1000 genomes]
rs2693760	0.85[CHB][hapmap]
rs2693765	0.82[ASN][1000 genomes]
rs2715951	0.89[ASN][1000 genomes]
rs2715952	0.93[ASN][1000 genomes]
rs2715953	0.88[ASN][1000 genomes]
rs2715957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715958	0.94[ASN][1000 genomes]
rs2715959	0.94[ASN][1000 genomes]
rs2715960	0.94[ASN][1000 genomes]
rs2715965	0.93[ASN][1000 genomes]
rs2715966	0.93[ASN][1000 genomes]
rs2715967	0.81[ASN][1000 genomes]
rs2715968	0.93[ASN][1000 genomes]
rs2715978	0.88[ASN][1000 genomes]
rs2715983	0.82[ASN][1000 genomes]
rs2715988	0.84[ASN][1000 genomes]
rs2715989	0.84[ASN][1000 genomes]
rs2715992	0.85[CHB][hapmap]
rs2716008	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2716009	0.88[ASN][1000 genomes]
rs2716010	0.87[ASN][1000 genomes]
rs6534178	0.84[ASN][1000 genomes]
rs955002	0.93[ASN][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	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv595333	chr4:121093248-121440368	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005240	chr4:121093285-121420997	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2662760	C4orf3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121226600-121229600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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