Variant report

Variant	rs11729411
Chromosome Location	chr4:47560163-47560164
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47559378..47560960-chr4:47564050..47565557,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10002592	0.81[ASN][1000 genomes]
rs10938494	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13106975	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2351791	0.95[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35818294	0.91[ASN][1000 genomes]
rs4342163	0.95[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.94[ASN][1000 genomes]
rs4694858	0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4694860	0.82[EUR][1000 genomes]
rs4695251	0.92[ASN][1000 genomes]
rs6447568	0.85[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6817957	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6817967	0.93[ASN][1000 genomes]
rs6827231	0.93[ASN][1000 genomes]
rs6858092	0.87[EUR][1000 genomes]
rs7699613	0.90[ASN][1000 genomes]
rs9790720	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9790830	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9993184	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11729411	PRKAA2	trans	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47512400-47577200	Weak transcription	Small Intestine	intestine
2	chr4:47534400-47560400	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:47534600-47580800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:47534600-47592000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:47536200-47571000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:47538600-47566800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:47538800-47571000	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:47539600-47589000	Weak transcription	Colonic Mucosa	Colon
9	chr4:47541000-47571000	Weak transcription	Spleen	Spleen
10	chr4:47542200-47563400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:47544800-47574000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:47545400-47566800	Strong transcription	Placenta	Placenta
13	chr4:47546400-47589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:47547200-47564200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:47548800-47583800	Weak transcription	Psoas Muscle	Psoas
16	chr4:47549000-47574000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:47549400-47563000	Weak transcription	Fetal Heart	heart
18	chr4:47549400-47566800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:47549400-47570800	Weak transcription	Esophagus	oesophagus
20	chr4:47549400-47570800	Weak transcription	NHLF	lung
21	chr4:47549400-47573600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:47549400-47574800	Weak transcription	Primary T cells from cord blood	blood
23	chr4:47549400-47576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:47549600-47570800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:47550800-47566800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:47552000-47562600	Weak transcription	Fetal Kidney	kidney
27	chr4:47553000-47570800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:47554000-47566800	Weak transcription	NHDF-Ad	bronchial
29	chr4:47554200-47566200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:47555800-47594800	Weak transcription	Stomach Mucosa	stomach
31	chr4:47556000-47570800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:47556200-47570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:47556400-47578800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:47556400-47588000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:47558800-47562600	Weak transcription	NHEK	skin
36	chr4:47558800-47563200	Weak transcription	HMEC	breast
37	chr4:47559200-47564000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr4:47559400-47561000	Strong transcription	Osteobl	bone
39	chr4:47559400-47566000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:47559600-47560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:47559600-47560200	Strong transcription	Brain Angular Gyrus	brain
42	chr4:47559600-47560200	ZNF genes & repeats	HSMM	muscle
43	chr4:47559600-47560400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:47559600-47560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:47559600-47560400	Strong transcription	Brain Anterior Caudate	brain
46	chr4:47559600-47560600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:47559600-47560600	Strong transcription	Aorta	Aorta
48	chr4:47559600-47560600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:47559600-47561200	Strong transcription	Fetal Intestine Large	intestine
50	chr4:47559600-47561600	Strong transcription	Primary B cells from cord blood	blood

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