Variant report

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114889023..114889538-chr12:45342253..45342809,2	MCF-7	breast:
2	chr12:44152736..44154248-chr12:45340094..45342820,2	K562	blood:
3	chr12:45342280..45342887-chr12:45354890..45355754,2	MCF-7	breast:
4	chr12:45342246..45343064-chr12:45516256..45517072,4	MCF-7	breast:
5	chr12:45342516..45343191-chr20:52556232..52556957,2	MCF-7	breast:
6	chr12:45342229..45343064-chr12:45516341..45517152,5	MCF-7	breast:
7	chr12:44351332..44351888-chr12:45342306..45343125,2	MCF-7	breast:
8	chr12:45336563..45338424-chr12:45340632..45342622,2	K562	blood:
9	chr12:44393907..44394577-chr12:45342454..45343052,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198001	Chromatin interaction
ENSG00000236352	Chromatin interaction

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

rs_ID	r²[population]
rs1450550	0.83[MKK][hapmap]
rs2658973	0.83[MKK][hapmap]
rs369442	0.81[AFR][1000 genomes]
rs372281	0.83[AFR][1000 genomes]
rs374038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs375660	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs377352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs381841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs383227	1.00[AMR][1000 genomes]
rs385584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs389144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs399567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs402960	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs436453	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs445380	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447351	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45342200-45342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:45342200-45342600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:45342200-45342600	Active TSS	K562	blood
4	chr12:45342200-45342800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:45342400-45342600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr12:45342400-45342600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:45342400-45342600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:45342400-45342600	Flanking Active TSS	Liver	Liver
9	chr12:45342400-45342600	Enhancers	Lung	lung
10	chr12:45342400-45342600	Flanking Active TSS	A549	lung
11	chr12:45342400-45342600	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr12:45342400-45342600	Flanking Active TSS	Hela-S3	cervix
13	chr12:45342400-45342600	Enhancers	HepG2	liver
14	chr12:45342400-45342600	Enhancers	HMEC	breast
15	chr12:45342400-45342600	Enhancers	NHEK	skin
16	chr12:45342400-45342800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr12:45342400-45342800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:45342400-45342800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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