Variant report

Variant	rs56062115
Chromosome Location	chr6:163807571-163807572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163805999..163807824-chr6:163833487..163836133,2	K562	blood:
2	chr6:163801051..163802963-chr6:163805360..163807590,2	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11962088	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11964436	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1414724	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1591536	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16894934	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737319	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1737320	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1737322	0.84[ASN][1000 genomes]
rs1737324	0.86[ASN][1000 genomes]
rs1737325	0.86[ASN][1000 genomes]
rs1737326	0.86[ASN][1000 genomes]
rs1737327	0.83[ASN][1000 genomes]
rs1737328	0.82[ASN][1000 genomes]
rs1764010	0.86[ASN][1000 genomes]
rs1764011	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1764012	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1764013	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1764015	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1764019	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1764020	0.82[ASN][1000 genomes]
rs2064230	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064231	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2065857	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34979127	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3763197	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857503	0.85[ASN][1000 genomes]
rs3857504	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3904720	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4263561	0.85[ASN][1000 genomes]
rs4709714	0.83[ASN][1000 genomes]
rs55779730	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6921172	0.89[ASN][1000 genomes]
rs6939218	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718878	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718879	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73013582	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73013591	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73015309	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73015318	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7758706	0.82[ASN][1000 genomes]
rs7772756	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9364687	0.85[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56062115	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
2	chr6:163802600-163807600	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:163802600-163812800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:163803200-163812600	Weak transcription	Fetal Heart	heart
5	chr6:163803400-163807800	Weak transcription	HepG2	liver
6	chr6:163805400-163807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:163805400-163813000	Weak transcription	HSMM	muscle
8	chr6:163805600-163807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:163806400-163807600	Weak transcription	Hela-S3	cervix
10	chr6:163806400-163809400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:163806400-163810000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:163806400-163810200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:163806800-163807800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:163807200-163807800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:163807200-163808000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:163807200-163808000	Enhancers	Brain Hippocampus Middle	brain
17	chr6:163807200-163808200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:163807200-163808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:163807200-163809200	Enhancers	HUVEC	blood vessel
20	chr6:163807400-163808000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:163807400-163808200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:163807400-163808800	Enhancers	NHEK	skin

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