Variant report

Variant	rs73759069
Chromosome Location	chr5:59785096-59785097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr5:59785046-59785833	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59784827..59787759-chr5:59790470..59792339,3	K562	blood:

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57261286	1.00[EUR][1000 genomes]
rs58566905	1.00[EUR][1000 genomes]
rs58771608	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59696553	1.00[EUR][1000 genomes]
rs60131839	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61058479	1.00[EUR][1000 genomes]
rs6449472	1.00[EUR][1000 genomes]
rs73108695	1.00[EUR][1000 genomes]
rs73759058	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73759059	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7703881	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7725694	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728159	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7737629	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59767200-59789000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59781400-59786600	Active TSS	Aorta	Aorta
3	chr5:59782000-59801000	Weak transcription	Fetal Brain Male	brain
4	chr5:59782400-59787200	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:59782800-59786000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:59783000-59785600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr5:59783000-59787600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:59783400-59785400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:59783400-59785400	Flanking Active TSS	A549	lung
10	chr5:59783600-59785200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:59783600-59785600	Active TSS	Placenta Amnion	Placenta Amnion
12	chr5:59783800-59785200	Weak transcription	Brain Substantia Nigra	brain
13	chr5:59784000-59785200	Active TSS	Brain Hippocampus Middle	brain
14	chr5:59784000-59785200	Active TSS	Fetal Intestine Large	intestine
15	chr5:59784000-59785600	Active TSS	HepG2	liver
16	chr5:59784200-59785200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:59784200-59785200	Enhancers	Osteobl	bone
18	chr5:59784200-59787800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:59784200-59790600	Weak transcription	Brain Anterior Caudate	brain
20	chr5:59784400-59785200	Active TSS	Fetal Stomach	stomach
21	chr5:59784400-59785200	Flanking Active TSS	NHEK	skin
22	chr5:59784400-59785600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:59784600-59785800	Weak transcription	Esophagus	oesophagus
24	chr5:59784600-59788800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:59784600-59789000	Weak transcription	NHDF-Ad	bronchial
26	chr5:59784600-59791200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:59784600-59791800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:59784600-59794200	Weak transcription	Gastric	stomach
29	chr5:59784800-59785400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:59784800-59786000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:59784800-59788800	Weak transcription	Stomach Mucosa	stomach
32	chr5:59784800-59793600	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:59785000-59785200	Flanking Active TSS	HMEC	breast
34	chr5:59785000-59785800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:59785000-59786000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:59785000-59786800	Weak transcription	Brain Angular Gyrus	brain
37	chr5:59785000-59787000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:59785000-59788800	Weak transcription	HSMM	muscle

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