Variant report

Variant	rs2594562
Chromosome Location	chr3:81817284-81817285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:81817236-81817301	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81816005..81818673-chr3:81820481..81822023,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242190	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1155277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs11711331	0.83[GIH][hapmap]
rs12495343	0.84[EUR][1000 genomes]
rs12635671	0.83[EUR][1000 genomes]
rs1375086	0.96[CEU][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1404297	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1829967	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1973800	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1973801	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1997002	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2244294	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2252530	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2594547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2594549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2594551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2594553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2594558	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680246	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2680260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2680274	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2680277	0.95[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680280	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691077	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691078	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691079	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691080	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691083	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691084	0.86[EUR][1000 genomes]
rs2691085	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691089	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691093	0.96[CEU][hapmap];0.89[GIH][hapmap];0.85[EUR][1000 genomes]
rs3772882	0.87[GIH][hapmap]
rs3772883	0.87[GIH][hapmap]
rs3772889	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3772899	0.96[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap]
rs3772902	0.96[CEU][hapmap];0.91[GIH][hapmap];0.89[TSI][hapmap]
rs3772914	0.86[MEX][hapmap]
rs3821548	0.83[GIH][hapmap]
rs3849570	0.83[GIH][hapmap]
rs3860595	0.91[GIH][hapmap]
rs4411908	0.87[GIH][hapmap]
rs6785616	0.86[MEX][hapmap]
rs6800135	0.86[MEX][hapmap]
rs6803932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7611902	0.90[EUR][1000 genomes]
rs7620240	0.81[GIH][hapmap]
rs950904	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9818090	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs9822266	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9832088	0.87[EUR][1000 genomes]
rs9860204	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9860805	0.96[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs9863009	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9869348	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81811200-81818200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81811400-81818200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:81811800-81818200	Weak transcription	Osteobl	bone
4	chr3:81811800-81818600	Weak transcription	NHEK	skin
5	chr3:81814800-81818200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:81815000-81818200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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