Variant report

Variant	esv1086961
Chromosome Location	chr11:4162154-4162156
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	POLR2A	chr11:4160304-4163787	K562	blood:	n/a	n/a
2	POLR2A	chr11:4162113-4162331	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4161568..4163586-chr11:4168274..4170312,2	K562	blood:

Variant related genes	Relation type
RRM1-AS1	TF binding region
ENSG00000231548	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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	rs201964325	chr11:4162155-4162156	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200084469	chr11:4162156-4162157	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:4148600-4164800	Weak transcription	HSMMtube	muscle
3	chr11:4148800-4165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:4149200-4164600	Weak transcription	Gastric	stomach
5	chr11:4149400-4162200	Weak transcription	Psoas Muscle	Psoas
6	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
7	chr11:4153400-4165200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:4157000-4162200	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:4157000-4166000	Weak transcription	NH-A	brain
10	chr11:4157400-4162200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:4159000-4163000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:4159000-4163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:4159000-4164800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:4159200-4163800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr11:4159400-4162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:4159400-4162400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr11:4159400-4162400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
18	chr11:4159400-4162400	ZNF genes & repeats	GM12878-XiMat	blood
19	chr11:4159400-4162600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:4159400-4162600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:4159400-4162600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:4159400-4162600	ZNF genes & repeats	Fetal Intestine Large	intestine
23	chr11:4159400-4162600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:4159400-4163000	ZNF genes & repeats	Fetal Lung	lung
25	chr11:4159400-4163000	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr11:4159400-4163200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:4159400-4163200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr11:4159400-4163200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:4159400-4163400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:4159400-4163400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:4159400-4163400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:4159400-4163400	ZNF genes & repeats	Fetal Brain Female	brain
33	chr11:4159400-4163400	Strong transcription	HSMM	muscle
34	chr11:4159400-4163800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr11:4159400-4163800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:4159400-4163800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:4159400-4164800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:4159400-4165000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:4159400-4165000	Strong transcription	Fetal Thymus	thymus
40	chr11:4159400-4165200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:4159400-4168000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:4159600-4162600	Strong transcription	HMEC	breast
43	chr11:4159600-4163600	Strong transcription	Osteobl	bone
44	chr11:4159800-4162400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr11:4159800-4162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:4159800-4163000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:4160000-4162600	ZNF genes & repeats	A549	lung
48	chr11:4160000-4163800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:4160000-4169200	Weak transcription	NHLF	lung
50	chr11:4160000-4172200	Weak transcription	NHEK	skin

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