Variant report

Variant	rs9458820
Chromosome Location	chr6:163815628-163815629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163808044..163809633-chr6:163814692..163817070,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13211340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572434	0.93[ASN][1000 genomes]
rs1737330	0.93[ASN][1000 genomes]
rs1764022	0.93[ASN][1000 genomes]
rs1764023	0.80[ASN][1000 genomes]
rs2259476	0.93[ASN][1000 genomes]
rs2259477	0.93[ASN][1000 genomes]
rs2757575	0.93[ASN][1000 genomes]
rs2757576	0.93[ASN][1000 genomes]
rs4709715	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939187	0.93[ASN][1000 genomes]
rs768662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767891	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365565	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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	esv1791729	chr6:163814557-163836689	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9458820	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163808000-163817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:163808600-163817600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:163809800-163819800	Weak transcription	Spleen	Spleen
4	chr6:163809800-163825600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163811000-163817400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:163812600-163816600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr6:163812600-163817400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:163813000-163816000	Enhancers	Left Ventricle	heart
9	chr6:163813200-163817200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:163813200-163817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:163813400-163816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:163813400-163817600	Weak transcription	Right Atrium	heart
13	chr6:163813800-163816600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:163813800-163816600	Weak transcription	Brain Germinal Matrix	brain
15	chr6:163813800-163817600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:163813800-163817600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:163813800-163817600	Weak transcription	NHDF-Ad	bronchial
18	chr6:163813800-163817800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:163813800-163818000	Weak transcription	Liver	Liver
20	chr6:163814000-163816200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:163814000-163816400	Weak transcription	Brain Angular Gyrus	brain
22	chr6:163814000-163817000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:163814000-163817200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:163814000-163817400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:163814000-163817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:163814000-163817400	Weak transcription	Fetal Lung	lung
27	chr6:163814000-163817400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:163814000-163817400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:163814000-163817400	Weak transcription	NH-A	brain
30	chr6:163814000-163817600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:163814000-163817600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:163814000-163817600	Weak transcription	Psoas Muscle	Psoas
33	chr6:163814000-163817600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:163814000-163817800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:163814000-163817800	Weak transcription	HSMM	muscle
36	chr6:163814000-163817800	Weak transcription	NHLF	lung
37	chr6:163814200-163815800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:163814200-163817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:163814200-163817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:163814200-163817800	Weak transcription	HMEC	breast
41	chr6:163814400-163817400	Weak transcription	Fetal Brain Male	brain
42	chr6:163814600-163817400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:163814800-163817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:163814800-163817400	Enhancers	Brain Substantia Nigra	brain
45	chr6:163815000-163815800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:163815000-163817200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:163815000-163817400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:163815000-163817600	Enhancers	Brain Hippocampus Middle	brain
49	chr6:163815000-163818600	Enhancers	Fetal Heart	heart
50	chr6:163815200-163817400	Weak transcription	NHEK	skin

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