Variant report

Variant	rs547838402
Chromosome Location	chr11:113346589-113346590
allele	G/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	REST	chr11:113346540-113346734	PANC-1	pancreas:	n/a	n/a
2	REST	chr11:113344076-113346611	PFSK-1	brain:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136
3	REST	chr11:113346022-113346703	PFSK-1	brain:	n/a	chr11:113346219-113346227 chr11:113346127-113346136

Variant related genes	Relation type
DRD2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv523683	chr11:113341391-113346955	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3404066	chr11:113344767-113347615	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113344800-113346600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:113344800-113346600	Enhancers	Pancreas	Pancrea
3	chr11:113344800-113346800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:113344800-113346800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:113345000-113346600	Bivalent Enhancer	Placenta	Placenta
6	chr11:113345000-113346600	Bivalent Enhancer	Spleen	Spleen
7	chr11:113345000-113346800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:113345200-113346600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:113345200-113347000	Active TSS	Brain Anterior Caudate	brain
10	chr11:113345600-113346600	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr11:113345600-113346600	Enhancers	Ovary	ovary
12	chr11:113346000-113346600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr11:113346200-113346600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr11:113346200-113346600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr11:113346200-113346600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:113346200-113346600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:113346200-113346600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr11:113346200-113346600	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr11:113346200-113346600	Flanking Active TSS	HMEC	breast
20	chr11:113346200-113346600	Bivalent/Poised TSS	HSMM	muscle
21	chr11:113346200-113346800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:113346400-113346600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:113346400-113346600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
24	chr11:113346400-113346600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:113346400-113346600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr11:113346400-113346600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr11:113346400-113346600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr11:113346400-113346600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:113346400-113346600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:113346400-113346600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:113346400-113346600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:113346400-113346600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr11:113346400-113346600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:113346400-113346600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:113346400-113346600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr11:113346400-113346600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr11:113346400-113346600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr11:113346400-113346600	Bivalent Enhancer	Fetal Brain Male	brain
39	chr11:113346400-113346600	Bivalent Enhancer	Fetal Lung	lung
40	chr11:113346400-113346600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr11:113346400-113346600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr11:113346400-113346600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr11:113346400-113346600	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr11:113346400-113346800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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