Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:66477005..66480333-chr17:66505465..66508900,3	MCF-7	breast:
2	chr17:66478447..66480249-chr17:66481824..66483617,2	MCF-7	breast:
3	chr17:66479120..66480633-chr17:66487594..66490135,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

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

rs_ID	r²[population]
rs11868680	0.83[CHB][hapmap]
rs12451558	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2361953	0.89[ASN][1000 genomes]
rs2909207	0.82[TSI][hapmap]
rs2909211	0.81[EUR][1000 genomes]
rs2909213	0.81[EUR][1000 genomes]
rs2909216	0.81[EUR][1000 genomes]
rs2909218	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs2952277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952280	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952283	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952284	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2952286	0.80[AMR][1000 genomes]
rs2952289	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs2952290	0.81[EUR][1000 genomes]
rs2952294	0.88[TSI][hapmap]
rs4968898	0.86[GIH][hapmap];0.91[MEX][hapmap]
rs6501468	0.82[TSI][hapmap]
rs8069148	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs883541	0.88[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2952279	SMURF2	cis	parietal	SCAN
rs2952279	STRADA	cis	parietal	SCAN
rs2952279	PRKAR1A	cis	multi-tissue	Pritchard
rs2952279	CD79B	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66467800-66487000	Weak transcription	Right Atrium	heart
2	chr17:66477000-66480200	Enhancers	HepG2	liver
3	chr17:66477400-66483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:66477600-66479200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:66478000-66479600	Enhancers	Ovary	ovary
6	chr17:66478200-66484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:66478400-66487600	Weak transcription	Gastric	stomach
8	chr17:66478800-66479200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:66478800-66479200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:66478800-66479400	Enhancers	Liver	Liver
11	chr17:66478800-66479400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr17:66478800-66479600	Enhancers	Primary monocytes fromperipheralblood	blood

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