Variant report

Variant	rs42289
Chromosome Location	chr5:14207720-14207721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs152781	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs245513	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26290	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26292	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27367	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27632	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27666	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33028	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33029	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33030	0.94[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs62346562	0.94[EUR][1000 genomes]
rs696289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs696290	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][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	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
2	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
3	chr5:14202000-14207800	Enhancers	Small Intestine	intestine
4	chr5:14202200-14212600	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:14203200-14207800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr5:14203800-14207800	Enhancers	Lung	lung
7	chr5:14203800-14214600	Enhancers	Fetal Thymus	thymus
8	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:14204200-14207800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:14204400-14210400	Weak transcription	Fetal Heart	heart
11	chr5:14204600-14207800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:14204600-14210000	Weak transcription	Placenta	Placenta
13	chr5:14205000-14214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:14205200-14209600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:14205200-14210000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:14205200-14210400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:14205200-14210400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:14205200-14211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:14205200-14212000	Weak transcription	Aorta	Aorta
20	chr5:14205400-14208000	Enhancers	HMEC	breast
21	chr5:14205400-14208600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:14205400-14208800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:14205400-14209000	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:14205400-14209400	Enhancers	Colon Smooth Muscle	Colon
25	chr5:14205400-14210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:14205400-14210400	Weak transcription	Brain Germinal Matrix	brain
27	chr5:14205400-14210400	Weak transcription	Fetal Brain Female	brain
28	chr5:14205400-14212000	Enhancers	Primary B cells from cord blood	blood
29	chr5:14205400-14212800	Weak transcription	Brain Anterior Caudate	brain
30	chr5:14205400-14213000	Weak transcription	Brain Angular Gyrus	brain
31	chr5:14205400-14214000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:14205400-14214200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:14205400-14215000	Enhancers	Fetal Intestine Large	intestine
34	chr5:14205400-14216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:14205600-14207800	Enhancers	NHDF-Ad	bronchial
37	chr5:14205600-14208000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:14205600-14208000	Enhancers	HepG2	liver
39	chr5:14205600-14208200	Weak transcription	Fetal Kidney	kidney
40	chr5:14205600-14208400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:14205600-14208400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:14205600-14208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:14205600-14209200	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:14205600-14209200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:14205600-14209800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:14205600-14210400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:14205600-14213000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:14205600-14213200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:14205600-14213400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr5:14205600-14216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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