Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16439945..16442891-chr11:16444169..16446797,2	K562	blood:
2	chr11:16438435..16440114-chr11:16441772..16443288,2	K562	blood:

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

rs_ID	r²[population]
rs1503442	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16933090	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58769283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61404451	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61469208	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73429701	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431671	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431673	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431677	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431679	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431686	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433503	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433521	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433560	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7925853	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16432400-16440400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:16433600-16446200	Weak transcription	Aorta	Aorta
3	chr11:16434600-16444000	Weak transcription	Psoas Muscle	Psoas
4	chr11:16438600-16440600	Enhancers	Fetal Brain Female	brain
5	chr11:16438800-16440600	Enhancers	Fetal Brain Male	brain
6	chr11:16439000-16440200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:16439200-16440200	Weak transcription	Brain Germinal Matrix	brain
8	chr11:16440000-16440200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:16440000-16440400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:16440000-16440400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:16440000-16440600	Enhancers	Left Ventricle	heart
12	chr11:16440000-16440800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:16440000-16440800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:16440000-16440800	Enhancers	Fetal Lung	lung

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