Variant report

Variant	esv1445810
Chromosome Location	chr11:8793108-8793114
allele	n/a
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	E2F4	chr11:8792963-8793195	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:8793002-8793317	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:8793009-8793327	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:8792996-8793343	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:8793034-8793351	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL2	chr11:8792884-8793424	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr11:8792839-8793416	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:8792842-8793495	SK-N-SH	brain:	n/a	n/a
9	MYC	chr11:8792955-8793259	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr11:8792989-8793222	MCF10A-Er-Src	breast:	n/a	n/a
11	NFIC	chr11:8792882-8793409	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr11:8792789-8793508	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr11:8792899-8793570	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:8792943-8793315	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:8792997-8793162	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr11:8792892-8793292	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr11:8792954-8793198	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr11:8792995-8793292	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr11:8793022-8793194	MCF10A-Er-Src	breast:	n/a	n/a
20	TCF12	chr11:8792819-8793516	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8708263..8710064-chr11:8790794..8793308,2	MCF-7	breast:
2	chr11:8792754..8796675-chr11:8797137..8799307,3	K562	blood:
3	chr11:8709572..8711665-chr11:8791796..8793909,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	chromatin interactions
ENSG00000166441	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66471685	chr11:8793109-8793110	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs146752028	chr11:8793113-8793114	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Barrett''s syndrome	19417022	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8777400-8795800	Enhancers	Rectal Smooth Muscle	rectum
2	chr11:8779600-8799600	Weak transcription	Fetal Brain Male	brain
3	chr11:8781400-8794600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:8784000-8794200	Weak transcription	Colonic Mucosa	Colon
5	chr11:8785200-8799400	Enhancers	Fetal Heart	heart
6	chr11:8786400-8794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:8786600-8795400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:8786600-8795400	Enhancers	Stomach Mucosa	stomach
9	chr11:8786600-8798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:8786600-8803000	Enhancers	Ovary	ovary
11	chr11:8787000-8797800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:8787600-8795000	Weak transcription	Fetal Intestine Large	intestine
13	chr11:8788200-8794200	Weak transcription	Gastric	stomach
14	chr11:8788200-8797000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:8788600-8799600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:8788800-8794200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:8788800-8794200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:8788800-8794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:8788800-8801400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:8789000-8795400	Enhancers	HMEC	breast
22	chr11:8789000-8801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:8789400-8794800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:8789400-8797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:8789400-8797400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
27	chr11:8789600-8799400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:8789600-8805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8790200-8793400	Weak transcription	Fetal Intestine Small	intestine
30	chr11:8790400-8793800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:8790400-8794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:8790400-8794200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:8790400-8795600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:8790400-8795800	Weak transcription	Small Intestine	intestine
35	chr11:8790600-8794400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:8790600-8796000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:8790800-8793800	Weak transcription	Placenta	Placenta
38	chr11:8790800-8794000	Weak transcription	Spleen	Spleen
39	chr11:8790800-8794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:8790800-8794200	Weak transcription	Lung	lung
41	chr11:8790800-8795000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:8790800-8797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:8791000-8794400	Weak transcription	Fetal Lung	lung
44	chr11:8791200-8793600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:8791200-8794200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:8791400-8793200	Weak transcription	HSMMtube	muscle
47	chr11:8791400-8793400	Weak transcription	Right Atrium	heart
48	chr11:8791400-8793600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:8791400-8794200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:8791400-8794200	Weak transcription	Esophagus	oesophagus

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