Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106358492..106362174-chr12:106362759..106365345,3	K562	blood:

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

rs_ID	r²[population]
rs10082945	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507207	0.88[ASN][1000 genomes]
rs10861535	0.97[ASN][1000 genomes]
rs11112823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611601	0.89[ASN][1000 genomes]
rs12426791	0.88[ASN][1000 genomes]
rs12812572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362980	0.88[ASN][1000 genomes]
rs1362981	0.88[ASN][1000 genomes]
rs2032769	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35819527	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312161	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4497504	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4592505	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138695	0.85[AFR][1000 genomes]
rs7138736	0.84[AFR][1000 genomes]
rs7300069	0.85[ASN][1000 genomes]
rs7973846	0.88[ASN][1000 genomes]
rs7976523	0.85[ASN][1000 genomes]

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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106354800-106360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:106354800-106360600	Weak transcription	Psoas Muscle	Psoas
3	chr12:106355200-106359800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:106355200-106360000	Weak transcription	Right Atrium	heart
5	chr12:106356000-106360800	Weak transcription	Right Ventricle	heart
6	chr12:106356000-106376000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:106356200-106360400	Weak transcription	Aorta	Aorta
8	chr12:106356200-106360800	Weak transcription	NH-A	brain
9	chr12:106356200-106361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:106356400-106360600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:106356600-106360800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:106356600-106364000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:106356800-106360400	Weak transcription	HSMMtube	muscle
14	chr12:106356800-106363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:106359200-106363800	Enhancers	Fetal Heart	heart
16	chr12:106359400-106359600	Enhancers	Left Ventricle	heart

Quick Search: