Variant report

Variant	rs11887906
Chromosome Location	chr2:47323349-47323350
allele	A/C
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:9)

rs_ID	r²[population]
rs1010724	1.00[AMR][1000 genomes]
rs11884772	1.00[AMR][1000 genomes]
rs13427974	1.00[AMR][1000 genomes]
rs17036015	1.00[AMR][1000 genomes]
rs17036119	1.00[AMR][1000 genomes]
rs2163984	1.00[AMR][1000 genomes]
rs36006218	1.00[AMR][1000 genomes]
rs58086545	1.00[AMR][1000 genomes]
rs6732744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv2716	chr2:47312166-47336600	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
8	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47316200-47325200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:47316400-47325200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:47316600-47335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:47317200-47325200	Weak transcription	Fetal Stomach	stomach
5	chr2:47321800-47335800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:47322200-47325200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47322400-47323400	Enhancers	Brain Hippocampus Middle	brain
8	chr2:47322400-47323600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:47322600-47323400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:47322800-47323600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:47323000-47323600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:47323000-47323600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:47323200-47323600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:47323200-47323800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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