Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:234835503-234835786	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr2:234835553-234835819	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:234835579-234835854	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr2:234835474-234835874	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr2:234835636-234835836	MCF10A-Er-Src	breast:	n/a	chr2:234835691-234835699
6	E2F4	chr2:234835574-234835765	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:234835573-234835774	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234835606..234837772-chr2:234955390..234957030,2	K562	blood:

Variant related genes	Relation type
TRPM8	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1004478	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs10490010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10803665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10803666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11562954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12470426	0.85[CEU][hapmap]
rs12473889	1.00[CEU][hapmap]
rs13028228	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17862920	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs17862921	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs17863838	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs17863841	1.00[CEU][hapmap]
rs17863842	1.00[CEU][hapmap]
rs17864741	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs35168608	0.89[EUR][1000 genomes]
rs6741751	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs7562952	1.00[CEU][hapmap]
rs7562971	1.00[CEU][hapmap]
rs7577262	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs7602303	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646718	0.93[CEU][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	chr2:234835600-234836000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search: