Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:80962385-80962672	MCF10A-Er-Src	breast:	n/a	chr7:80962506-80962517
2	EP300	chr7:80962324-80962608	SK-N-SH_RA	brain:	n/a	n/a
3	FOSL2	chr7:80962205-80962770	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr7:80962106-80962888	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr7:80962064-80962856	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:80962401-80962601	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:80962325-80962713	HUVEC	blood vessel:	n/a	chr7:80962506-80962517
8	GATA3	chr7:80961928-80962832	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr7:80962090-80962860	SK-N-SH	brain:	n/a	n/a
10	FOS	chr7:80962347-80962684	MCF10A-Er-Src	breast:	n/a	chr7:80962506-80962517
11	STAT3	chr7:80962446-80962640	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:80962213-80962666	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr7:80962242-80962771	SK-N-SH	brain:	n/a	n/a
14	E2F4	chr7:80962587-80963121	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr7:80962137-80962810	SK-N-SH	brain:	n/a	chr7:80962186-80962195
16	EP300	chr7:80962308-80962636	SK-N-SH_RA	brain:	n/a	n/a
17	JUND	chr7:80962193-80962764	SK-N-SH	brain:	n/a	n/a
18	JUND	chr7:80962184-80962782	SK-N-SH	brain:	n/a	n/a
19	FOS	chr7:80962349-80962644	MCF10A-Er-Src	breast:	n/a	chr7:80962506-80962517
20	GATA3	chr7:80961928-80962786	SK-N-SH	brain:	n/a	n/a
21	FOS	chr7:80962341-80962685	MCF10A-Er-Src	breast:	n/a	chr7:80962506-80962517
22	TEAD4	chr7:80962164-80962824	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:9826922..9827956-chr7:80962579..80963126,4	MCF-7	breast:
2	chr21:9825203..9829000-chr7:80961603..80964605,6	K562	blood:
3	chr16:33962092..33964869-chr7:80961645..80964614,3	K562	blood:
4	chr21:9826944..9828888-chr7:80961584..80963104,3	MCF-7	breast:
5	chr16:33962860..33963638-chr7:80962583..80963587,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10230396	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230536	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241793	0.81[YRI][hapmap]
rs12534736	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707346	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707347	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155004	0.93[YRI][hapmap]
rs17626903	0.86[ASN][1000 genomes]
rs2107399	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969877	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149728	0.83[ASN][1000 genomes]
rs7792904	0.81[AMR][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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1014079	CD36	cis	cerebellum	SCAN
rs1014079	PHTF2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80959600-80962800	Enhancers	Hela-S3	cervix
2	chr7:80959800-80963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:80960000-80962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:80960200-80962800	Enhancers	HSMM	muscle
5	chr7:80960200-80962800	Enhancers	NH-A	brain
6	chr7:80960200-80962800	Enhancers	Osteobl	bone
7	chr7:80960600-80963000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:80961000-80963200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:80961200-80962800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:80961200-80963000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:80961400-80962800	Weak transcription	NHEK	skin
12	chr7:80961800-80962600	Weak transcription	HMEC	breast
13	chr7:80962000-80962800	Weak transcription	HUVEC	blood vessel
14	chr7:80962200-80962800	Weak transcription	HSMMtube	muscle
15	chr7:80962200-80963200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:80962200-80963200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:80962400-80962600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

Quick Search: