Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:43699443..43701089-chr3:43729093..43731996,2	MCF-7	breast:
2	chr3:43699724..43702634-chr3:43714279..43716424,2	K562	blood:
3	chr3:43699095..43702381-chr3:43731036..43733718,3	K562	blood:
4	chr3:43699957..43702381-chr3:43731117..43733718,2	K562	blood:

Variant related genes	Relation type
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1021049	0.94[CHD][hapmap]
rs1038202	0.94[CHD][hapmap]
rs11714015	0.94[CHD][hapmap]
rs13084604	0.94[CHD][hapmap]
rs13092838	0.94[CHD][hapmap]
rs13098202	0.94[CHD][hapmap]
rs1482648	0.94[CHD][hapmap]
rs1482651	0.94[CHD][hapmap]
rs1482652	0.94[CHD][hapmap]
rs17075971	1.00[JPT][hapmap]
rs2054554	0.94[CHD][hapmap]
rs2170219	0.94[CHD][hapmap]
rs2219902	0.94[CHD][hapmap]
rs3755602	0.94[CHD][hapmap]
rs3772165	0.94[CHD][hapmap]
rs3774790	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3774792	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3821381	0.94[CHD][hapmap]
rs4325902	0.83[ASN][1000 genomes]
rs4682690	0.94[CHD][hapmap]
rs4682691	0.94[CHD][hapmap]
rs4682892	0.94[CHD][hapmap]
rs4682900	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6441786	0.94[CHD][hapmap]
rs6768557	0.94[CHD][hapmap]
rs6809134	0.94[CHD][hapmap]
rs7428158	0.82[CHD][hapmap]
rs7616708	0.94[CHD][hapmap]
rs7621271	0.94[CHD][hapmap]
rs7630010	0.83[ASN][1000 genomes]
rs7653738	0.94[CHD][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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3345913	chr3:43698997-43729867	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4432612	PTH1R	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43691600-43700800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:43698200-43702200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:43698200-43702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:43700200-43700400	Enhancers	Colonic Mucosa	Colon
5	chr3:43700200-43700400	Enhancers	K562	blood

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