Variant report

Variant	rs9347752
Chromosome Location	chr6:163921377-163921378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163921298..163924177-chr6:163927731..163929828,2	MCF-7	breast:
2	chr6:163919801..163922242-chr6:163941031..163943536,2	K562	blood:
3	chr6:163921116..163923007-chr6:163926762..163928930,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12210561	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1230320	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1234977	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1572434	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1614869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1737610	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2259476	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2259477	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2475390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2757575	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2757576	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2757584	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2757585	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2759386	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2759396	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6939187	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73021476	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7450397	0.81[ASN][1000 genomes]
rs783137	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs783139	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs803612	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347758	0.87[ASN][1000 genomes]
rs9347765	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347766	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9365575	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9458843	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv524205	chr6:163919517-163938331	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763608	chr6:163920117-163943429	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9347752	QKI	cis	Whole Blood	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:163902600-163921800	Weak transcription	HepG2	liver
3	chr6:163903000-163924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:163903600-163926000	Weak transcription	Lung	lung
5	chr6:163905800-163921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:163907200-163925000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:163907200-163926000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:163909400-163923800	Weak transcription	Aorta	Aorta
9	chr6:163909600-163922600	Weak transcription	Fetal Brain Female	brain
10	chr6:163911200-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:163911200-163926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:163911600-163928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
14	chr6:163912200-163921600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:163912200-163921600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:163912400-163926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:163912600-163925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:163913000-163928000	Weak transcription	HUVEC	blood vessel
19	chr6:163913800-163922800	Enhancers	Brain Angular Gyrus	brain
20	chr6:163915600-163925400	Weak transcription	A549	lung
21	chr6:163915600-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:163915600-163928000	Weak transcription	Osteobl	bone
23	chr6:163915800-163922600	Weak transcription	K562	blood
24	chr6:163915800-163927400	Weak transcription	HSMM	muscle
25	chr6:163916000-163929200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:163916200-163928200	Enhancers	Brain Substantia Nigra	brain
27	chr6:163917000-163928000	Weak transcription	Liver	Liver
28	chr6:163917600-163925000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:163917800-163922200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:163917800-163923000	Weak transcription	Psoas Muscle	Psoas
31	chr6:163917800-163925000	Weak transcription	Right Atrium	heart
32	chr6:163918000-163922200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:163918000-163922200	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:163918600-163922600	Enhancers	Brain Hippocampus Middle	brain
35	chr6:163919200-163922400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:163919200-163922800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr6:163919200-163923200	Enhancers	Fetal Heart	heart
38	chr6:163919400-163922800	Enhancers	Brain Cingulate Gyrus	brain
39	chr6:163919600-163923800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:163919800-163922200	Weak transcription	Left Ventricle	heart
41	chr6:163919800-163925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:163919800-163926400	Enhancers	Brain Anterior Caudate	brain
43	chr6:163920000-163924000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:163920200-163934800	Weak transcription	Ovary	ovary
45	chr6:163920600-163921400	Enhancers	Right Ventricle	heart
46	chr6:163920600-163922400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:163920600-163922800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:163920800-163921400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:163920800-163922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:163921000-163921400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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