Variant report

No.	Distal block	Cell Line	Cell type
1	chr9:73039108..73041193-chr9:73072278..73074654,2	K562	blood:
2	chr9:73037880..73039765-chr9:73096769..73099373,2	K562	blood:
3	chr9:73039010..73040852-chr9:73086991..73089902,2	K562	blood:
4	chr9:73032627..73037536-chr9:73038722..73043805,11	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11142420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11142431	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142434	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142435	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142441	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142443	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142451	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11142452	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142453	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142454	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142462	0.81[EUR][1000 genomes]
rs11142464	0.81[EUR][1000 genomes]
rs11142465	0.81[EUR][1000 genomes]
rs12236725	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12238429	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13291393	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13298975	0.81[EUR][1000 genomes]
rs1556739	0.81[EUR][1000 genomes]
rs4744598	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4745011	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9644995	0.81[EUR][1000 genomes]

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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv428219	chr9:73006269-73192535	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73036400-73040600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr9:73036600-73039800	Weak transcription	Aorta	Aorta
3	chr9:73036600-73040000	Weak transcription	Lung	lung
4	chr9:73037200-73042600	Weak transcription	Stomach Mucosa	stomach
5	chr9:73037400-73042000	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:73037600-73040200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:73037600-73042800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:73037600-73050400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:73037800-73042200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:73037800-73042600	Weak transcription	Right Ventricle	heart
11	chr9:73037800-73049800	Weak transcription	HUVEC	blood vessel
12	chr9:73038000-73039800	Weak transcription	Right Atrium	heart
13	chr9:73038400-73040000	Weak transcription	Left Ventricle	heart
14	chr9:73038800-73050600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:73039200-73039800	Weak transcription	Psoas Muscle	Psoas
16	chr9:73039200-73040000	Weak transcription	Spleen	Spleen
17	chr9:73039400-73039800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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