Variant report

Variant	rs4982486
Chromosome Location	chr14:22162482-22162483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10148566	0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10151114	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs12431503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12434471	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap]
rs12589185	0.95[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs12589513	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs12589962	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs12894518	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs17182761	0.95[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2204931	0.82[EUR][1000 genomes]
rs2319874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2319875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28575550	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs35762321	0.86[EUR][1000 genomes]
rs4628878	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs4982482	0.80[EUR][1000 genomes]
rs4982483	0.81[EUR][1000 genomes]
rs4982487	1.00[ASW][hapmap];0.87[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55654479	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59305233	0.89[AFR][1000 genomes]
rs6650488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7143458	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs7143695	0.85[ASN][1000 genomes]
rs7148008	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7158141	0.80[ASN][1000 genomes]
rs725891	0.82[MEX][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap]
rs72688056	0.89[AFR][1000 genomes]
rs8017708	0.91[YRI][hapmap]
rs8020038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs8020165	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8022425	0.89[CHB][hapmap];1.00[JPT][hapmap]

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	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
3	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4982486	PSMB11	cis	cerebellum	SCAN
rs4982486	TEP1	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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