Variant report

Variant	rs56348550
Chromosome Location	chr8:11566283-11566284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11559801..11562734-chr8:11565950..11568340,2	K562	blood:

Variant related genes	Relation type
ENSG00000136574	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3415599	chr8:11565343-11567591	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11562800-11567400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
5	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
6	chr8:11564800-11567000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr8:11564800-11567200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:11565400-11566600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr8:11565400-11566600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:11565400-11566600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:11565400-11566600	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:11565400-11566800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:11565400-11567200	Weak transcription	HepG2	liver
15	chr8:11565400-11567400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:11565400-11567400	Transcr. at gene 5' and 3'	Ovary	ovary
17	chr8:11565400-11567800	Transcr. at gene 5' and 3'	Gastric	stomach
18	chr8:11565400-11568000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:11565400-11568200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:11565600-11566400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:11565600-11566600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr8:11565600-11566600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:11565600-11567000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:11565600-11567200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:11565600-11568000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:11565800-11566400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:11565800-11566600	Transcr. at gene 5' and 3'	Right Ventricle	heart
28	chr8:11565800-11567000	Weak transcription	Fetal Heart	heart
29	chr8:11565800-11567000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:11566000-11566400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:11566000-11566400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:11566000-11566400	Active TSS	Fetal Intestine Small	intestine
33	chr8:11566000-11566600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:11566000-11566800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr8:11566000-11567200	Weak transcription	Liver	Liver
36	chr8:11566000-11567600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr8:11566200-11566800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr8:11566200-11567000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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