Variant report

Variant	rs724826
Chromosome Location	chr6:163938594-163938595
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	chr6:163936784..163940539-chr6:163940693..163944816,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1047935	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13199835	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13202282	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2143358	0.81[ASN][1000 genomes]
rs2294698	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294703	0.83[ASN][1000 genomes]
rs2294706	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294709	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35442073	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4709716	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4709717	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4709718	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4709720	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709722	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs715020	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9346960	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9347760	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9364688	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9364689	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9364691	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9364692	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	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
6	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs724826	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
4	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
6	chr6:163928600-163941000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:163928800-163942800	Weak transcription	HSMM	muscle
8	chr6:163928800-163944000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
10	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:163929200-163946800	Weak transcription	HMEC	breast
13	chr6:163929400-163943800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:163929600-163940000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
18	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
20	chr6:163930400-163940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:163930400-163941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:163930600-163943600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:163930600-163950200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:163933400-163939800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:163934000-163939800	Enhancers	Fetal Heart	heart
26	chr6:163934200-163946600	Weak transcription	NHEK	skin
27	chr6:163934200-163949200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:163935200-163939800	Weak transcription	Brain Anterior Caudate	brain
29	chr6:163935200-163939800	Weak transcription	Placenta	Placenta
30	chr6:163935200-163940200	Weak transcription	Left Ventricle	heart
31	chr6:163935200-163940200	Weak transcription	Psoas Muscle	Psoas
32	chr6:163935200-163940400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:163935200-163943800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:163935200-163946000	Weak transcription	A549	lung
35	chr6:163935200-163946400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:163935200-163946800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:163935200-163947400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:163935200-163950600	Weak transcription	Ovary	ovary
39	chr6:163935200-163952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:163935200-163959400	Weak transcription	Lung	lung
42	chr6:163935400-163943000	Weak transcription	Liver	Liver
43	chr6:163935400-163951600	Weak transcription	Pancreas	Pancrea
44	chr6:163935800-163943000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:163936400-163940000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:163936800-163939800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:163936800-163947200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:163936800-163953600	Enhancers	Brain Hippocampus Middle	brain
49	chr6:163936800-163957400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:163937800-163938600	Enhancers	Colon Smooth Muscle	Colon

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