Variant report

Variant	rs548214663
Chromosome Location	chr8:11591132-11591133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11583078..11587577-chr8:11589128..11594677,6	K562	blood:
2	chr8:11591065..11593958-chr8:11596215..11599028,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11585600-11592400	Enhancers	Liver	Liver
2	chr8:11587200-11592400	Enhancers	Left Ventricle	heart
3	chr8:11587400-11591600	Enhancers	Right Atrium	heart
4	chr8:11588000-11591400	Enhancers	Fetal Heart	heart
5	chr8:11588400-11593200	Weak transcription	HepG2	liver
6	chr8:11589600-11591200	Weak transcription	Right Ventricle	heart
7	chr8:11589800-11592400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:11590000-11592000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:11590200-11591600	Enhancers	Stomach Mucosa	stomach
10	chr8:11590200-11591800	Enhancers	Brain Germinal Matrix	brain
11	chr8:11590400-11591200	Bivalent Enhancer	Fetal Lung	lung
12	chr8:11590400-11591600	Enhancers	Colon Smooth Muscle	Colon
13	chr8:11590400-11591600	Enhancers	Stomach Smooth Muscle	stomach
14	chr8:11590400-11593800	Weak transcription	Pancreas	Pancrea
15	chr8:11590400-11594000	Weak transcription	Gastric	stomach
16	chr8:11590600-11591200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:11590600-11591200	Weak transcription	Placenta	Placenta
18	chr8:11590600-11591400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:11591000-11591400	Bivalent Enhancer	HSMMtube	muscle
20	chr8:11591000-11591600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr8:11591000-11591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:11591000-11591600	Genic enhancers	Duodenum Mucosa	Duodenum
23	chr8:11591000-11592000	Enhancers	Ovary	ovary

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