Variant report

Variant	rs11859924
Chromosome Location	chr16:47590790-47590791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11859041	1.00[AMR][1000 genomes]
rs11859745	1.00[AMR][1000 genomes]
rs11859829	1.00[AMR][1000 genomes]
rs11860314	1.00[AMR][1000 genomes]
rs11860698	1.00[AMR][1000 genomes]
rs11863564	1.00[AMR][1000 genomes]
rs11863702	1.00[AMR][1000 genomes]
rs11863785	1.00[AMR][1000 genomes]
rs11864218	1.00[AMR][1000 genomes]
rs11864400	1.00[AMR][1000 genomes]
rs11864575	1.00[AMR][1000 genomes]
rs11865249	1.00[AMR][1000 genomes]
rs11865330	1.00[AMR][1000 genomes]
rs11866253	1.00[AMR][1000 genomes]
rs11866307	1.00[AMR][1000 genomes]
rs12103147	1.00[AMR][1000 genomes]
rs13332639	1.00[AMR][1000 genomes]
rs13336222	1.00[AMR][1000 genomes]
rs13337120	1.00[AMR][1000 genomes]
rs28512495	1.00[AMR][1000 genomes]
rs28654807	1.00[AMR][1000 genomes]
rs28797865	1.00[AMR][1000 genomes]
rs35691326	1.00[AMR][1000 genomes]
rs9930900	1.00[AMR][1000 genomes]
rs9940720	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47539400-47599000	Weak transcription	NHEK	skin
2	chr16:47548800-47605000	Weak transcription	Right Ventricle	heart
3	chr16:47553600-47599000	Weak transcription	NHLF	lung
4	chr16:47580000-47599200	Weak transcription	Osteobl	bone
5	chr16:47580200-47593400	Weak transcription	Psoas Muscle	Psoas
6	chr16:47581000-47596000	Weak transcription	Brain Anterior Caudate	brain
7	chr16:47581000-47599000	Weak transcription	HSMM	muscle
8	chr16:47581000-47615800	Weak transcription	Placenta	Placenta
9	chr16:47581000-47624200	Weak transcription	Brain Substantia Nigra	brain
10	chr16:47581200-47624600	Weak transcription	Colonic Mucosa	Colon
11	chr16:47581200-47627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:47581400-47641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:47581800-47599000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:47581800-47621400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:47582000-47608200	Weak transcription	Fetal Thymus	thymus
16	chr16:47582000-47624200	Weak transcription	Fetal Kidney	kidney
17	chr16:47582200-47625000	Weak transcription	Fetal Heart	heart
18	chr16:47584600-47599000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:47584600-47599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:47584600-47599200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:47584600-47599200	Weak transcription	K562	blood
22	chr16:47584600-47599200	Weak transcription	NH-A	brain
23	chr16:47584600-47599400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:47584600-47600600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:47584600-47604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:47584600-47607000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:47584600-47624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:47584600-47624400	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:47584800-47595800	Weak transcription	Aorta	Aorta
30	chr16:47584800-47598200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:47584800-47598800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr16:47584800-47599200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:47584800-47599200	Weak transcription	Left Ventricle	heart
34	chr16:47584800-47599600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:47584800-47601800	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:47584800-47622600	Weak transcription	Brain Angular Gyrus	brain
37	chr16:47585200-47595200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:47586200-47599200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr16:47586200-47605800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr16:47586800-47593600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr16:47586800-47600600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr16:47587000-47599200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:47588000-47598800	Weak transcription	GM12878-XiMat	blood
44	chr16:47588000-47599600	Weak transcription	Brain Germinal Matrix	brain
45	chr16:47588000-47607400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:47588200-47594400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:47588200-47599000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr16:47588200-47599000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr16:47588200-47599600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:47588200-47599800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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