Variant report

Variant	rs557146294
Chromosome Location	chr11:46414976-46414977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46141600..46143492-chr11:46413694..46415670,2	K562	blood:
2	chr11:46414393..46416737-chr11:46429746..46431617,2	K562	blood:
3	chr11:46382758..46384571-chr11:46413597..46415273,2	K562	blood:
4	chr11:46412693..46415235-chr11:46560575..46563535,2	K562	blood:
5	chr11:46369976..46372560-chr11:46412510..46415040,2	K562	blood:
6	chr11:46413333..46415363-chr11:46417315..46419574,2	MCF-7	breast:
7	chr11:46413148..46415878-chr11:46416015..46418632,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46410800-46415000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:46410800-46415000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:46412000-46415000	Enhancers	Lung	lung
4	chr11:46412400-46415000	Active TSS	Brain Angular Gyrus	brain
5	chr11:46412800-46415000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:46412800-46415000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:46412800-46415000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:46413000-46425000	Weak transcription	Fetal Heart	heart
9	chr11:46413200-46415000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:46413400-46415000	Flanking Bivalent TSS/Enh	Thymus	Thymus
11	chr11:46414000-46415000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:46414000-46415000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr11:46414000-46415000	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr11:46414000-46415200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr11:46414200-46415000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:46414200-46415000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:46414200-46415200	Enhancers	Fetal Kidney	kidney
18	chr11:46414200-46415200	Enhancers	Spleen	Spleen
19	chr11:46414200-46429000	Weak transcription	Hela-S3	cervix
20	chr11:46414200-46432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:46414400-46415000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:46414400-46415000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:46414400-46415000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:46414400-46415000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:46414400-46415000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:46414400-46415000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr11:46414400-46415000	Bivalent Enhancer	Fetal Brain Male	brain
28	chr11:46414400-46415000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr11:46414400-46415000	Flanking Active TSS	K562	blood
30	chr11:46414400-46418000	Weak transcription	HSMMtube	muscle
31	chr11:46414600-46415000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:46414600-46415000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr11:46414600-46415000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr11:46414600-46415000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr11:46414600-46415000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr11:46414600-46415000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:46414600-46415000	Enhancers	Liver	Liver
38	chr11:46414600-46415000	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:46414600-46415000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr11:46414600-46415000	Enhancers	Fetal Lung	lung
41	chr11:46414600-46415000	Enhancers	Left Ventricle	heart
42	chr11:46414600-46415000	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr11:46414600-46415200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:46414600-46415200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr11:46414600-46415200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr11:46414600-46415200	Flanking Active TSS	HepG2	liver
47	chr11:46414600-46415200	Bivalent Enhancer	NHEK	skin
48	chr11:46414600-46415400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr11:46414600-46417400	Weak transcription	Colonic Mucosa	Colon
50	chr11:46414600-46417400	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links