Variant report

Variant	rs56920377
Chromosome Location	chr14:39533549-39533550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2415530	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57095311	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146995	0.83[AMR][1000 genomes]
rs7155918	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285770	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285780	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285782	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287665	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73287682	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003707	1.00[AMR][1000 genomes]
rs8014205	0.83[AMR][1000 genomes]
rs8014508	0.83[AMR][1000 genomes]
rs8014887	0.89[AFR][1000 genomes];1.00[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39521200-39535600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:39523800-39540200	Weak transcription	Psoas Muscle	Psoas
3	chr14:39525400-39540600	Strong transcription	NH-A	brain
4	chr14:39525600-39540600	Strong transcription	HSMM	muscle
5	chr14:39525600-39541000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:39526000-39537400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:39526000-39557200	Strong transcription	Osteobl	bone
9	chr14:39526200-39535200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:39526600-39534200	Strong transcription	Brain Germinal Matrix	brain
12	chr14:39526800-39534000	Weak transcription	Small Intestine	intestine
13	chr14:39526800-39534800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:39526800-39535000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:39526800-39535400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:39526800-39535400	Strong transcription	NHDF-Ad	bronchial
17	chr14:39526800-39537200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:39526800-39538400	Strong transcription	Liver	Liver
19	chr14:39526800-39540400	Weak transcription	Spleen	Spleen
20	chr14:39526800-39540800	Weak transcription	Right Ventricle	heart
21	chr14:39526800-39541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:39526800-39552600	Weak transcription	Gastric	stomach
23	chr14:39526800-39553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:39526800-39554000	Weak transcription	Aorta	Aorta
25	chr14:39526800-39554000	Weak transcription	Esophagus	oesophagus
26	chr14:39526800-39554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:39526800-39554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:39527000-39536600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr14:39527000-39537200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:39527000-39537200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:39527000-39539000	Weak transcription	Lung	lung
33	chr14:39527000-39540600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:39527000-39540600	Weak transcription	Thymus	Thymus
35	chr14:39527000-39541800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:39527000-39554200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:39527400-39536000	Strong transcription	Fetal Lung	lung
39	chr14:39527400-39536400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:39527400-39536600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:39527400-39536600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:39527400-39537200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:39527400-39538200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr14:39527400-39538400	Strong transcription	HepG2	liver
45	chr14:39527400-39549000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:39527600-39554200	Weak transcription	K562	blood
47	chr14:39528000-39535000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr14:39528000-39536600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:39528000-39547800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:39528000-39565400	Strong transcription	Placenta	Placenta

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