Variant report

Variant	rs4233312
Chromosome Location	chr1:215912320-215912321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10779659	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs10864191	0.90[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11120613	0.94[ASW][hapmap];0.85[CEU][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs11120620	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs12091942	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs12092733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs12406638	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2364864	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2797213	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs2797216	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2797217	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2797218	0.91[TSI][hapmap]
rs2797219	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2797221	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2797257	0.86[JPT][hapmap]
rs2797258	0.82[CEU][hapmap]
rs2797259	0.94[CEU][hapmap]
rs2797260	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2797261	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2820708	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2820709	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2820710	0.88[TSI][hapmap]
rs2820715	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2820716	0.86[JPT][hapmap]
rs2820717	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2820718	0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs2820719	0.81[EUR][1000 genomes]
rs2820723	0.84[CEU][hapmap]
rs2820724	0.84[CEU][hapmap]
rs4330896	0.90[CEU][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs6666832	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6698895	0.90[CEU][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs7540897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9430146	0.84[CEU][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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv873171	chr1:215825167-215925167	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549190	chr1:215903837-215928483	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4233312	ANGEL2	cis	parietal	SCAN

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

No data

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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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