Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7413774..7415680-chr2:7420486..7422433,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10183292	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10197609	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10200485	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10205823	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898813	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11898847	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1594314	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17629193	0.95[ASN][1000 genomes]
rs17629326	1.00[ASN][1000 genomes]
rs17679952	0.85[ASN][1000 genomes]
rs17679999	0.85[ASN][1000 genomes]
rs55751069	0.95[ASN][1000 genomes]
rs55900254	0.95[ASN][1000 genomes]
rs60010006	0.82[ASN][1000 genomes]
rs6720017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724621	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72770052	0.81[ASN][1000 genomes]
rs72770055	0.81[ASN][1000 genomes]
rs72770056	0.81[ASN][1000 genomes]
rs72770057	0.85[ASN][1000 genomes]
rs72770065	0.95[ASN][1000 genomes]
rs7599240	0.95[ASN][1000 genomes]
rs7599262	0.82[ASN][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	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv833337	chr2:7337273-7521146	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1006240	chr2:7408292-7664557	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535578	chr2:7408292-7664557	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:7400200-7428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:7419200-7425400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:7420800-7421800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:7421000-7421800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:7421000-7422200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:7421000-7422400	Enhancers	Fetal Brain Male	brain
7	chr2:7421000-7422400	Enhancers	Fetal Brain Female	brain
8	chr2:7421200-7421600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:7421200-7422000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:7421200-7422000	Enhancers	Fetal Lung	lung
11	chr2:7421200-7422400	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:7421400-7421800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:7421400-7422000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:7421400-7422000	Enhancers	Fetal Stomach	stomach
15	chr2:7421400-7422000	Enhancers	Pancreas	Pancrea
16	chr2:7421400-7422400	Enhancers	Fetal Thymus	thymus

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