Variant report

Variant	rs548861547
Chromosome Location	chr11:18727157-18727158
allele	A/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	CTCF	chr11:18726940-18727485	HCT-116	colon:	n/a	n/a
2	MXI1	chr11:18726724-18728916	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr11:18727060-18727485	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18725792..18727506-chr11:18741119..18743990,2	MCF-7	breast:
2	chr11:18721312..18723604-chr11:18725131..18727597,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254966	TF binding region
ENSG00000151117	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	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3342768	chr11:18726926-18729124	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18721000-18727400	Weak transcription	Aorta	Aorta
2	chr11:18722000-18727400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:18722600-18727200	Weak transcription	Lung	lung
4	chr11:18723800-18727200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:18724400-18727200	Enhancers	Left Ventricle	heart
6	chr11:18724400-18727200	Enhancers	Right Ventricle	heart
7	chr11:18724600-18727200	Weak transcription	Spleen	Spleen
8	chr11:18725000-18727200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:18725400-18727200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:18725800-18727200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:18725800-18727200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:18726400-18727200	Enhancers	Esophagus	oesophagus
13	chr11:18726400-18727200	Enhancers	Fetal Stomach	stomach
14	chr11:18726400-18727400	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr11:18726400-18727600	Flanking Active TSS	Stomach Mucosa	stomach
16	chr11:18726600-18727200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr11:18726600-18727200	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:18726600-18727200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:18726600-18727200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr11:18726600-18727200	Enhancers	Liver	Liver
21	chr11:18726600-18727200	Enhancers	Fetal Kidney	kidney
22	chr11:18726600-18727600	Flanking Active TSS	Fetal Heart	heart
23	chr11:18726800-18727200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr11:18726800-18727200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr11:18726800-18727200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:18726800-18727200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:18726800-18727200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:18726800-18727200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:18726800-18727200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:18726800-18727200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:18726800-18727200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr11:18726800-18727200	Enhancers	Pancreas	Pancrea
33	chr11:18726800-18727200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr11:18726800-18727400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:18726800-18727400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:18726800-18727400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:18726800-18727400	Enhancers	Gastric	stomach
38	chr11:18726800-18727600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr11:18726800-18727600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr11:18726800-18727600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:18726800-18727600	Flanking Active TSS	Fetal Brain Male	brain
42	chr11:18726800-18727600	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr11:18726800-18727800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr11:18726800-18727800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr11:18726800-18728600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr11:18727000-18727200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:18727000-18727200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr11:18727000-18727200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:18727000-18727200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:18727000-18727200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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