Variant report

Variant	rs1386497
Chromosome Location	chr12:72392290-72392291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007023	0.85[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs1017933	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10748187	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10748189	0.91[CEU][hapmap];0.85[CHB][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10784942	0.91[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10784944	0.85[ASW][hapmap];0.91[CEU][hapmap];0.85[CHB][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10784945	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1386489	0.85[ASW][hapmap];0.91[CEU][hapmap];0.85[CHB][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs1386490	0.82[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs1386494	0.91[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs1386495	0.85[EUR][1000 genomes]
rs1386496	0.91[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1473473	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1487276	0.84[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1487281	0.85[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1843809	0.91[CEU][hapmap];0.85[CHB][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs1843812	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2046582	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2220330	0.85[EUR][1000 genomes]
rs2367899	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760749	0.91[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4760751	0.85[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760752	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760753	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760814	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760818	0.92[ASW][hapmap];1.00[CEU][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6582081	0.91[CEU][hapmap];0.92[CHD][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7299582	0.91[CEU][hapmap];0.85[CHB][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes]
rs7300490	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7307319	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7310090	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954332	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954568	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7963226	1.00[CEU][hapmap];0.92[CHD][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968346	0.91[CEU][hapmap];0.85[CHB][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes]
rs990234	0.91[CEU][hapmap];0.85[YRI][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	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1386497	THAP2	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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