Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:122264300-122264450	HMF	breast:	n/a	n/a
2	CTCF	chr7:122264238-122264589	GM12878	blood:	n/a	n/a
3	FOS	chr7:122264169-122264462	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr7:122264156-122264628	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:122258398..122260912-chr7:122263449..122265674,2	MCF-7	breast:

Variant related genes	Relation type
CADPS2	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2192017	0.82[TSI][hapmap];0.80[YRI][hapmap]
rs2254981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[ASN][1000 genomes]
rs2430016	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2430020	0.80[YRI][hapmap]
rs2430022	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2430024	0.97[GIH][hapmap];0.82[TSI][hapmap];0.80[YRI][hapmap]
rs2430025	0.85[ASN][1000 genomes]
rs2430042	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2430044	0.83[CHB][hapmap]
rs2430050	0.82[CEU][hapmap]
rs2430053	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2471189	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2471190	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2471193	0.82[CHB][hapmap]
rs2471195	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2471196	0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2471199	0.84[CHB][hapmap]
rs2471214	0.83[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2471215	0.82[ASN][1000 genomes]
rs2471216	0.82[ASN][1000 genomes]
rs3808171	0.84[ASN][1000 genomes]
rs4285412	0.84[CHB][hapmap];0.80[YRI][hapmap]

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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr7:122217600-122265600	Weak transcription	Aorta	Aorta
2	chr7:122254800-122271400	Weak transcription	Left Ventricle	heart
3	chr7:122257600-122268800	Weak transcription	HepG2	liver
4	chr7:122263000-122265400	Weak transcription	Gastric	stomach
5	chr7:122263600-122264800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:122264000-122264600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:122264000-122264600	Enhancers	NHDF-Ad	bronchial

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