Variant report

No data

(count:8 , 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	chr12:44393907..44394577-chr12:45342454..45343052,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236352	Chromatin interaction
ENSG00000198001	Chromatin interaction

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

rs_ID	r²[population]
rs10880694	0.81[CHB][hapmap]
rs10880698	0.81[CHB][hapmap]
rs10880699	0.81[CHB][hapmap]
rs11182704	0.81[CHB][hapmap]
rs11182714	0.87[CHB][hapmap]
rs11182722	0.81[CHB][hapmap]
rs11182725	0.87[CHB][hapmap]
rs11182729	0.81[CHB][hapmap]
rs11182732	0.80[CHB][hapmap]
rs11182796	0.86[CHB][hapmap]
rs11182798	0.87[CHB][hapmap]
rs11182806	0.81[CHB][hapmap]
rs11182807	0.81[CHB][hapmap]
rs11182809	0.81[CHB][hapmap]
rs12227622	0.87[CHB][hapmap]
rs12228073	0.81[CHB][hapmap]
rs12228476	0.87[CHB][hapmap]
rs12581903	0.81[CHB][hapmap]
rs17095247	0.93[CHB][hapmap]
rs2658950	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2658976	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2658977	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2703052	0.87[CHB][hapmap]
rs2710418	0.81[CHB][hapmap]
rs2710421	0.86[ASN][1000 genomes]
rs2710424	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2710447	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58724768	0.85[ASN][1000 genomes]
rs71459276	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7295338	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7315817	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3407092	chr12:45342734-45368068	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs447760	DBX2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45342200-45342800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:45342400-45342800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:45342400-45342800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:45342400-45342800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45342600-45342800	Flanking Active TSS	Dnd41	blood
6	chr12:45342600-45344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:45342600-45344400	Weak transcription	K562	blood

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