Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:40958036-40958338	GM12891	blood:	n/a	n/a
2	NFIC	chr12:40958100-40958497	GM12878	blood:	n/a	n/a
3	EP300	chr12:40958054-40959758	SK-N-SH	brain:	n/a	chr12:40959007-40959021 chr12:40958467-40958481

Variant related genes	Relation type
MUC19	TF binding region

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10083205	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10784705	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs10878851	0.96[ASN][1000 genomes]
rs10878852	0.96[ASN][1000 genomes]
rs10878853	0.96[ASN][1000 genomes]
rs10878854	0.96[ASN][1000 genomes]
rs10878859	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11177164	0.82[ASN][1000 genomes]
rs11177178	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11177226	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs11177343	0.96[ASN][1000 genomes]
rs11177424	0.91[ASN][1000 genomes]
rs11177431	0.90[ASN][1000 genomes]
rs11177433	0.91[ASN][1000 genomes]
rs12049990	0.81[ASN][1000 genomes]
rs1492319	0.82[YRI][hapmap]
rs1602635	0.87[JPT][hapmap]
rs2588399	0.81[YRI][hapmap]
rs2933352	0.82[YRI][hapmap]
rs3751173	0.98[ASN][1000 genomes]
rs4768299	0.81[ASN][1000 genomes]
rs56080664	0.98[ASN][1000 genomes]
rs61913722	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61913725	0.81[ASN][1000 genomes]
rs7955772	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962990	0.91[ASN][1000 genomes]
rs7972739	0.87[JPT][hapmap]
rs7974188	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[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:2 , 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

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