Variant report

Variant	rs2784871
Chromosome Location	chr6:163793685-163793686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11751433	0.83[ASN][1000 genomes]
rs11760168	0.86[ASN][1000 genomes]
rs13202733	0.80[ASN][1000 genomes]
rs13204052	0.80[ASN][1000 genomes]
rs1336223	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1336224	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1336225	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1737319	0.81[ASN][1000 genomes]
rs1737320	0.81[ASN][1000 genomes]
rs1737321	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1737322	0.81[ASN][1000 genomes]
rs1737324	0.80[ASN][1000 genomes]
rs1737325	0.80[ASN][1000 genomes]
rs1737326	0.80[ASN][1000 genomes]
rs1764009	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1764010	0.80[ASN][1000 genomes]
rs1764011	0.80[ASN][1000 genomes]
rs1764012	0.80[ASN][1000 genomes]
rs1764013	0.80[ASN][1000 genomes]
rs2064224	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2064226	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2064227	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744422	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2784872	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2784875	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4709713	0.85[ASN][1000 genomes]
rs6455897	0.86[ASN][1000 genomes]
rs6908317	0.90[ASN][1000 genomes]
rs6927805	0.92[ASN][1000 genomes]
rs6929436	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[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	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
rs2784871	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 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	chr6:163792400-163796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:163792400-163796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:163792800-163794000	Weak transcription	Brain Substantia Nigra	brain

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