Variant report

Variant	rs571608020
Chromosome Location	chr11:47562989-47562990
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47556325..47561893-chr11:47562676..47568878,7	K562	blood:
2	chr11:47560470..47563383-chr11:47586492..47588638,2	MCF-7	breast:
3	chr11:47443547..47446409-chr11:47561688..47563935,2	K562	blood:
4	chr11:47560397..47564902-chr11:47572106..47576382,5	K562	blood:
5	chr11:47557144..47558701-chr11:47561698..47563428,2	K562	blood:
6	chr11:47560397..47563182-chr11:47569730..47573934,4	K562	blood:
7	chr11:47428310..47430848-chr11:47562022..47563970,2	MCF-7	breast:
8	chr11:47529126..47530970-chr11:47562135..47565880,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165915	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000255197	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47546000-47572400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:47546400-47564200	Weak transcription	Thymus	Thymus
3	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
4	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47551000-47563200	Enhancers	Fetal Brain Male	brain
6	chr11:47553000-47573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:47554400-47572400	Weak transcription	Aorta	Aorta
8	chr11:47554800-47571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:47554800-47572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:47557600-47565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:47557800-47563000	Enhancers	Adipose Nuclei	Adipose
12	chr11:47557800-47567000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:47558400-47572600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:47558800-47565600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr11:47559000-47566200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr11:47559000-47567000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:47559000-47571800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:47559400-47566200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:47559600-47572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr11:47560200-47563000	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:47560200-47563000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:47560200-47563000	Enhancers	Brain Angular Gyrus	brain
23	chr11:47560200-47563000	Enhancers	Brain Hippocampus Middle	brain
24	chr11:47560400-47563000	Enhancers	Liver	Liver
25	chr11:47560400-47563200	Enhancers	Esophagus	oesophagus
26	chr11:47560400-47567400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:47560600-47565000	Enhancers	Left Ventricle	heart
28	chr11:47560800-47563000	Enhancers	Primary T cells from cord blood	blood
29	chr11:47560800-47564000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:47560800-47565400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:47560800-47566000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:47560800-47566600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr11:47561000-47567000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:47561400-47563600	Enhancers	K562	blood
35	chr11:47561400-47568000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:47561600-47565600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:47561600-47573200	Weak transcription	Placenta	Placenta
38	chr11:47561800-47563000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:47561800-47563800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:47561800-47566800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:47562000-47563000	Enhancers	HUVEC	blood vessel
42	chr11:47562000-47563600	Weak transcription	Fetal Intestine Small	intestine
43	chr11:47562000-47564400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:47562000-47565600	Weak transcription	Brain Anterior Caudate	brain
45	chr11:47562000-47565600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:47562000-47565800	Weak transcription	HepG2	liver
47	chr11:47562000-47568000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:47562000-47570600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:47562000-47571800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:47562000-47572600	Weak transcription	Brain Substantia Nigra	brain

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