Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:16624948-16630305	IMR90	lung:	n/a	chr11:16628126-16628135

Variant related genes	Relation type
C11orf58	TF binding region
SOX6	TF binding region

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10741705	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832641	0.88[ASN][1000 genomes]
rs10832647	0.82[AFR][1000 genomes]
rs10832648	0.82[AFR][1000 genomes]
rs10832665	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11023983	0.88[ASN][1000 genomes]
rs11600664	0.88[ASN][1000 genomes]
rs11603453	0.90[ASN][1000 genomes]
rs11603503	0.90[ASN][1000 genomes]
rs12574185	0.82[AFR][1000 genomes]
rs12575840	0.80[AFR][1000 genomes]
rs12794400	0.82[AFR][1000 genomes]
rs12795502	0.88[ASN][1000 genomes]
rs12799418	0.85[ASN][1000 genomes]
rs12801314	0.88[ASN][1000 genomes]
rs4508168	0.96[ASN][1000 genomes]
rs4757417	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5011327	0.88[ASN][1000 genomes]
rs56965201	0.81[AFR][1000 genomes]
rs6486300	0.83[AFR][1000 genomes]
rs7103094	0.82[AFR][1000 genomes]
rs7115099	0.81[AFR][1000 genomes]
rs7927904	0.81[AFR][1000 genomes]
rs7928885	0.82[AFR][1000 genomes]
rs7935756	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9988855	0.82[AFR][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	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
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:16625800-16630600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:16629800-16634200	Weak transcription	Pancreas	Pancrea
3	chr11:16630000-16633200	Weak transcription	Right Atrium	heart
4	chr11:16630000-16633600	Weak transcription	Left Ventricle	heart
5	chr11:16630000-16633600	Weak transcription	Right Ventricle	heart
6	chr11:16630000-16634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:16630000-16634200	Weak transcription	Psoas Muscle	Psoas
8	chr11:16630000-16634400	Weak transcription	K562	blood
9	chr11:16630200-16630400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:16630200-16630400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:16630200-16630600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:16630200-16630800	Enhancers	Fetal Heart	heart
13	chr11:16630200-16631200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:16630200-16631600	Enhancers	Brain Germinal Matrix	brain

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