Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:234835436-234835674	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TRPM8	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10432393	1.00[EUR][1000 genomes]
rs10490015	1.00[EUR][1000 genomes]
rs11563061	1.00[EUR][1000 genomes]
rs11563217	1.00[EUR][1000 genomes]
rs11563220	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862886	1.00[MEX][hapmap]
rs28514310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28901602	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28901604	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28901605	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28901607	1.00[EUR][1000 genomes]
rs28901609	1.00[EUR][1000 genomes]
rs28901611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs28901620	1.00[EUR][1000 genomes]
rs28901644	1.00[EUR][1000 genomes]
rs28901648	1.00[EUR][1000 genomes]
rs28902176	1.00[EUR][1000 genomes]
rs28902188	1.00[EUR][1000 genomes]
rs28902474	0.81[AMR][1000 genomes]
rs7564831	1.00[ASW][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234834400-234838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234834800-234837200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:234835000-234836200	Enhancers	HMEC	breast
4	chr2:234835000-234836400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:234835200-234836200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:234835200-234836200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:234835200-234836200	Enhancers	Esophagus	oesophagus
8	chr2:234835200-234836200	Enhancers	NHEK	skin
9	chr2:234835200-234836400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:234835400-234835600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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