Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163787459..163789359-chr6:163790484..163793224,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1336223	0.82[AMR][1000 genomes]
rs1336224	0.82[AMR][1000 genomes]
rs1336225	0.82[AMR][1000 genomes]
rs1414724	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1591536	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1737319	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737320	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737321	0.81[AMR][1000 genomes]
rs1737322	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737324	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737325	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737326	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737327	0.89[EUR][1000 genomes]
rs1764010	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1764011	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1764012	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1764013	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1764015	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1764019	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2064224	0.82[AMR][1000 genomes]
rs2064226	0.83[AMR][1000 genomes]
rs2064230	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2064231	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2744422	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34720350	0.80[ASN][1000 genomes]
rs34979127	0.82[EUR][1000 genomes]
rs718878	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs718879	0.89[AMR][1000 genomes];0.91[EUR][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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv970668	chr6:163792636-163802489	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2744419	QKI	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:163791000-163794200	Weak transcription	Left Ventricle	heart
3	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
4	chr6:163791200-163793800	Weak transcription	Spleen	Spleen
5	chr6:163791200-163794200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:163791600-163793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:163792200-163794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:163792400-163793200	Weak transcription	Fetal Heart	heart
9	chr6:163792400-163796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:163792400-163796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:163792800-163794000	Weak transcription	Brain Substantia Nigra	brain

Quick Search: