Variant report

Variant	rs58813780
Chromosome Location	chr4:151115863-151115864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56658749	1.00[AMR][1000 genomes]
rs57086689	1.00[AMR][1000 genomes]
rs57376312	1.00[AMR][1000 genomes]
rs60502732	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951529	0.90[AFR][1000 genomes]
rs72951530	0.90[AFR][1000 genomes]
rs72951532	0.90[AFR][1000 genomes]
rs72951545	0.90[AFR][1000 genomes]
rs72951591	1.00[AMR][1000 genomes]
rs72953824	1.00[AMR][1000 genomes]
rs72953832	1.00[AMR][1000 genomes]
rs72953841	1.00[AMR][1000 genomes]
rs72955804	1.00[AMR][1000 genomes]
rs72967205	1.00[AMR][1000 genomes]
rs72967244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969281	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3381409	chr4:151115527-151117625	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151097600-151129000	Weak transcription	Lung	lung
2	chr4:151098200-151120000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:151098200-151128000	Weak transcription	Fetal Stomach	stomach
4	chr4:151100000-151127800	Weak transcription	Osteobl	bone
5	chr4:151100200-151116800	Weak transcription	HSMM	muscle
6	chr4:151101600-151127600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:151103200-151138000	Weak transcription	NH-A	brain
8	chr4:151104200-151127400	Weak transcription	Fetal Brain Female	brain
9	chr4:151104600-151119000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:151108600-151130000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:151108800-151120200	Weak transcription	A549	lung
12	chr4:151108800-151129000	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:151109000-151126400	Weak transcription	Fetal Lung	lung
14	chr4:151109600-151116800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:151109800-151116800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:151112600-151128200	Weak transcription	Left Ventricle	heart
17	chr4:151114000-151118400	Weak transcription	NHLF	lung
18	chr4:151114200-151154200	Weak transcription	Aorta	Aorta
19	chr4:151114600-151116200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:151115000-151117200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:151115200-151116000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:151115400-151127200	Weak transcription	HSMMtube	muscle
23	chr4:151115800-151116000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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