Variant report

Variant	rs9458808
Chromosome Location	chr6:163755252-163755253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163745590..163748829-chr6:163752310..163756417,4	MCF-7	breast:
2	chr6:163753262..163755789-chr6:163835091..163838973,3	K562	blood:
3	chr6:163751446..163754906-chr6:163755143..163760328,4	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12195744	0.88[JPT][hapmap]
rs12527711	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12529440	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12664139	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13190955	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13192912	0.92[ASN][1000 genomes]
rs13196281	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13211088	0.92[CEU][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13211237	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13214515	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13218916	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17393817	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34418608	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56212042	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6928196	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71569403	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9458809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv605188	chr6:163697439-163772096	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	esv1803546	chr6:163749552-163757127	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv18186	chr6:163755135-163755860	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9458808	QKI	cis	parietal	SCAN
rs9458808	LOC441177	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
3	chr6:163746600-163759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
5	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
6	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
7	chr6:163748600-163756600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:163751600-163755800	Weak transcription	HUVEC	blood vessel
9	chr6:163751600-163756600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:163751600-163756800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:163751600-163759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:163751600-163759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:163752400-163756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:163752600-163758200	Enhancers	Adipose Nuclei	Adipose
15	chr6:163752800-163756000	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:163753400-163755400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:163753400-163756400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:163753600-163759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:163754000-163755400	Weak transcription	Brain Angular Gyrus	brain
20	chr6:163754200-163757400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:163754200-163760000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:163754400-163756200	Enhancers	Fetal Kidney	kidney
23	chr6:163754400-163758200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:163754400-163760400	Enhancers	Fetal Muscle Trunk	muscle
25	chr6:163754600-163760200	Enhancers	Left Ventricle	heart
26	chr6:163754600-163760800	Enhancers	Fetal Muscle Leg	muscle
27	chr6:163754800-163755800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:163754800-163757200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:163755000-163756800	Enhancers	NHDF-Ad	bronchial
30	chr6:163755000-163757600	Enhancers	Fetal Lung	lung
31	chr6:163755000-163757800	Enhancers	Placenta	Placenta
32	chr6:163755000-163758400	Enhancers	Right Ventricle	heart
33	chr6:163755000-163760200	Enhancers	Lung	lung
34	chr6:163755200-163756800	Enhancers	Osteobl	bone
35	chr6:163755200-163757200	Enhancers	Fetal Heart	heart
36	chr6:163755200-163758000	Enhancers	Spleen	Spleen
37	chr6:163755200-163758200	Enhancers	Right Atrium	heart
38	chr6:163755200-163758400	Enhancers	Psoas Muscle	Psoas

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