Variant report

Variant	rs2679149
Chromosome Location	chr4:147290788-147290789
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs2244316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248348	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248826	1.00[AMR][1000 genomes]
rs2255242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256112	1.00[AMR][1000 genomes]
rs2262884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460033	1.00[AMR][1000 genomes]
rs2630277	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630284	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630294	1.00[AMR][1000 genomes]
rs2630299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630300	1.00[AMR][1000 genomes]
rs2630306	1.00[AMR][1000 genomes]
rs2679121	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679128	1.00[AMR][1000 genomes]
rs2679130	1.00[AMR][1000 genomes]
rs2679131	1.00[AMR][1000 genomes]
rs2679134	1.00[AMR][1000 genomes]
rs2679135	1.00[AMR][1000 genomes]
rs2679145	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679160	1.00[AMR][1000 genomes]
rs4027057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58494546	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816058	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950672	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950679	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950682	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950684	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950690	1.00[AMR][1000 genomes]
rs72950697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952511	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952515	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv3400231	chr4:147269396-147292066	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147276200-147292400	Weak transcription	Aorta	Aorta
2	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
3	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
4	chr4:147287200-147293400	Weak transcription	Pancreas	Pancrea
5	chr4:147287600-147292000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:147288000-147292400	Enhancers	Fetal Heart	heart
7	chr4:147288800-147293800	Enhancers	HUVEC	blood vessel
8	chr4:147289000-147291800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:147289400-147291800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:147289600-147291400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:147289800-147291600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:147290000-147291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:147290400-147291200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:147290400-147291400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:147290400-147291600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:147290400-147291600	Weak transcription	Ovary	ovary
17	chr4:147290600-147291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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