Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16508192..16511548-chr11:16513536..16517052,6	K562	blood:
2	chr11:16510283..16512210-chr11:16515897..16517942,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10734247	1.00[AMR][1000 genomes]
rs10766330	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12225686	1.00[AMR][1000 genomes]
rs1354327	1.00[AMR][1000 genomes]
rs1354328	1.00[AMR][1000 genomes]
rs1503444	1.00[AMR][1000 genomes]
rs1995466	1.00[AMR][1000 genomes]
rs4247300	1.00[AMR][1000 genomes]
rs4287304	0.88[AFR][1000 genomes]
rs4369362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4411253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4547057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4643039	1.00[AMR][1000 genomes]
rs4756854	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4757406	0.98[AFR][1000 genomes]
rs61883865	0.88[AFR][1000 genomes]
rs6486291	1.00[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110090	0.81[LWK][hapmap];0.91[MKK][hapmap];1.00[AMR][1000 genomes]
rs7126947	1.00[AMR][1000 genomes]
rs7932293	1.00[AMR][1000 genomes]
rs7933676	1.00[AMR][1000 genomes]
rs7937573	1.00[AFR][1000 genomes];1.00[AMR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7108946	TMPRSS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16506200-16517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:16510400-16533000	Weak transcription	Fetal Heart	heart
3	chr11:16516200-16517600	Enhancers	Right Ventricle	heart
4	chr11:16516400-16517200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:16516400-16517400	Enhancers	Psoas Muscle	Psoas
6	chr11:16516600-16517200	Enhancers	Pancreas	Pancrea
7	chr11:16516600-16517600	Enhancers	Left Ventricle	heart
8	chr11:16516600-16517600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:16516800-16517400	Enhancers	Right Atrium	heart
10	chr11:16517000-16517400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:16517000-16517600	Enhancers	Fetal Muscle Leg	muscle

Quick Search: