Variant report

Variant	rs28661528
Chromosome Location	chr5:147119180-147119181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10036585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10037199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10042877	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077132	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10476888	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477347	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17497858	0.93[AFR][1000 genomes]
rs17497914	0.93[AFR][1000 genomes]
rs2116770	0.90[AFR][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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147103600-147121800	Weak transcription	Fetal Brain Male	brain
3	chr5:147111800-147126600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:147112000-147126600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:147112600-147122800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:147113000-147119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:147113000-147121800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:147113000-147121800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:147113000-147131000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:147114800-147122200	Weak transcription	Brain Anterior Caudate	brain
11	chr5:147115000-147123200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:147115600-147126800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:147115600-147127200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:147116000-147119400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:147117400-147155800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:147118200-147119400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:147118800-147120600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:147119000-147119400	Enhancers	Brain Substantia Nigra	brain
19	chr5:147119000-147120200	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:147119000-147120200	Enhancers	Brain Inferior Temporal Lobe	brain

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