Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:40963268-40963345	GM12878	blood:	n/a	n/a
2	STAT3	chr12:40963198-40963354	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MUC19	TF binding region

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11177342	0.83[AMR][1000 genomes]
rs11177402	0.86[AMR][1000 genomes]
rs1492316	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1881300	0.87[AMR][1000 genomes]
rs1881301	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1918948	0.87[AMR][1000 genomes]
rs1948402	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1965311	0.87[ASN][1000 genomes]
rs3751172	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4767986	0.82[AMR][1000 genomes]
rs4768295	0.87[AMR][1000 genomes]
rs4768297	0.82[AMR][1000 genomes]
rs4768298	0.82[AMR][1000 genomes]
rs61913721	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6581843	0.82[AMR][1000 genomes]
rs7132352	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133943	0.85[ASN][1000 genomes]
rs7134461	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7302859	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7303591	0.90[ASN][1000 genomes]
rs7308571	0.86[ASN][1000 genomes]
rs7487017	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7955355	0.82[AMR][1000 genomes]
rs7958558	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7960018	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977943	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv683	chr12:40951473-40996258	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40947400-40967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40956000-40963600	Weak transcription	GM12878-XiMat	blood
3	chr12:40962800-40964400	Enhancers	A549	lung
4	chr12:40962800-40964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:40963200-40964400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:40963200-40964400	Enhancers	NHDF-Ad	bronchial
7	chr12:40963200-40964800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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