Variant report

Variant	rs28575550
Chromosome Location	chr14:22186982-22186983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10132760	0.95[CEU][hapmap]
rs10148566	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10151114	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1018344	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1018345	0.95[CEU][hapmap]
rs12431503	0.85[JPT][hapmap]
rs12589185	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589513	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs12589962	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12894518	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17182761	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1997531	0.84[CEU][hapmap]
rs1997532	0.95[CEU][hapmap]
rs1997533	0.95[CEU][hapmap]
rs2319874	0.95[ASN][1000 genomes]
rs2319875	0.95[ASN][1000 genomes]
rs4513011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4528483	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4628878	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982486	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs4982487	0.95[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs55654479	0.95[ASN][1000 genomes]
rs6650488	0.85[JPT][hapmap]
rs7143695	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7148008	0.82[JPT][hapmap]
rs7150049	0.95[CEU][hapmap]
rs7155323	0.81[EUR][1000 genomes]
rs7158141	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003447	0.89[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap]
rs8011341	0.84[CEU][hapmap]
rs8011509	0.95[CEU][hapmap]
rs8011979	0.95[CEU][hapmap]
rs8013476	1.00[CEU][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs8016911	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018604	0.95[CEU][hapmap]
rs8019537	0.89[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap]
rs8020038	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs8020165	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs8022088	0.94[CEU][hapmap]
rs8022425	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs28575550	OR4N2	cis	parietal	SCAN
rs28575550	EDDM3B	cis	parietal	SCAN
rs28575550	SLC39A2	cis	cerebellum	SCAN
rs28575550	JPH4	cis	parietal	SCAN

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

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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