Variant report

Variant	rs192510528
Chromosome Location	chr11:46353829-46353830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr11:46353813-46354480	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46334610..46337424-chr11:46352781..46354879,2	K562	blood:
2	chr11:46352485..46355160-chr11:46382549..46384847,2	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000157613	Chromatin interaction
ENSG00000149091	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	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	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv3345003	chr11:46353526-46356074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46344000-46354000	Weak transcription	Gastric	stomach
2	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
3	chr11:46351200-46354000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:46351200-46354000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:46351200-46354000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:46351200-46354000	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr11:46351200-46354200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr11:46351400-46354000	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:46351400-46354000	Enhancers	Thymus	Thymus
10	chr11:46351600-46354000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
11	chr11:46351600-46354200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:46351600-46354400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:46351800-46354000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr11:46351800-46354000	Bivalent Enhancer	K562	blood
15	chr11:46351800-46354400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr11:46352000-46354000	Enhancers	Right Ventricle	heart
17	chr11:46352000-46354200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr11:46352200-46354000	Enhancers	Right Atrium	heart
19	chr11:46352200-46354200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:46352400-46354200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr11:46352400-46354200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr11:46352400-46354400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:46352400-46354400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:46352600-46354000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:46352600-46354000	Weak transcription	Ovary	ovary
28	chr11:46352600-46354200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:46352800-46354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:46353000-46354000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:46353000-46354000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:46353000-46354200	Enhancers	Lung	lung
33	chr11:46353200-46354000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
34	chr11:46353200-46354200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:46353200-46354200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:46353200-46356000	Enhancers	Spleen	Spleen
37	chr11:46353400-46354000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:46353400-46354000	Bivalent Enhancer	Brain Anterior Caudate	brain
39	chr11:46353600-46354000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr11:46353600-46354000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr11:46353600-46354000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:46353600-46354000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
43	chr11:46353600-46354000	Bivalent Enhancer	Placenta	Placenta
44	chr11:46353600-46354200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr11:46353600-46354200	Bivalent Enhancer	Fetal Lung	lung
46	chr11:46353600-46354400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr11:46353600-46354400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:46353600-46354800	Bivalent Enhancer	Dnd41	blood
49	chr11:46353600-46355800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:46353800-46354000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell

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