Variant report

Variant	rs9812548
Chromosome Location	chr3:115883224-115883225
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10511355	0.88[CHB][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap]
rs12330535	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13078076	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1461109	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461116	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461132	0.83[ASN][1000 genomes]
rs1461134	0.84[ASN][1000 genomes]
rs1468003	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs1898	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs1947689	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2864074	0.88[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2864075	0.83[ASN][1000 genomes]
rs56138725	0.81[ASN][1000 genomes]
rs6438299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438300	0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap]
rs6438303	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs6438304	0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap]
rs6807792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7618443	0.83[ASN][1000 genomes]
rs7629590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7638493	0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap]
rs7640143	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs7641198	0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap]
rs7644082	0.86[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9818695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9826725	0.81[ASN][1000 genomes]
rs9834589	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs9834897	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs9835757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9870541	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9872975	0.95[ASN][1000 genomes]
rs9875609	0.88[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap]
rs998807	0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2751975	chr3:115766285-115902901	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2755046	chr3:115818840-115942952	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv591345	chr3:115819376-115902901	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2752728	chr3:115833212-115902901	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2751976	chr3:115867310-115903310	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3365465	chr3:115881362-115884960	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3411515	chr3:115882712-115884760	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115880400-115884000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:115881000-115889600	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:115881200-115884000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:115881400-115884000	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:115881600-115884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:115881600-115891800	Weak transcription	Fetal Brain Male	brain
7	chr3:115882000-115883800	Weak transcription	Brain Germinal Matrix	brain
8	chr3:115883000-115885600	Enhancers	Brain Substantia Nigra	brain
9	chr3:115883200-115883600	Weak transcription	Brain Angular Gyrus	brain
10	chr3:115883200-115883600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:115883200-115883600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:115883200-115883600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:115883200-115883600	Weak transcription	Fetal Lung	lung

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