Variant report

Variant	esv2081438
Chromosome Location	chr11:4159829-4159830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56134721	chr11:4159829-4159830	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:4138200-4160600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:4138800-4160400	Strong transcription	Placenta	Placenta
5	chr11:4144800-4160800	Weak transcription	Colonic Mucosa	Colon
6	chr11:4148600-4164800	Weak transcription	HSMMtube	muscle
7	chr11:4148800-4165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:4149200-4160600	Weak transcription	Spleen	Spleen
9	chr11:4149200-4164600	Weak transcription	Gastric	stomach
10	chr11:4149400-4162200	Weak transcription	Psoas Muscle	Psoas
11	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
12	chr11:4149800-4160600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:4153400-4165200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:4157000-4162200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:4157000-4166000	Weak transcription	NH-A	brain
16	chr11:4157400-4161000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:4157400-4162200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:4157800-4160600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:4157800-4160600	Weak transcription	Lung	lung
20	chr11:4158000-4160600	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:4158000-4160600	Weak transcription	Fetal Stomach	stomach
22	chr11:4158600-4160400	Weak transcription	Fetal Intestine Small	intestine
23	chr11:4159000-4163000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:4159000-4163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:4159000-4164800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:4159200-4160200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:4159200-4160200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:4159200-4161400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:4159200-4161600	ZNF genes & repeats	Dnd41	blood
30	chr11:4159200-4163800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr11:4159400-4160000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:4159400-4160000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:4159400-4160000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr11:4159400-4160000	Strong transcription	A549	lung
35	chr11:4159400-4160000	Strong transcription	NHEK	skin
36	chr11:4159400-4160000	Strong transcription	NHLF	lung
37	chr11:4159400-4160200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:4159400-4160200	Strong transcription	Fetal Heart	heart
39	chr11:4159400-4160400	Strong transcription	Primary B cells from cord blood	blood
40	chr11:4159400-4160400	Strong transcription	Brain Substantia Nigra	brain
41	chr11:4159400-4160600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:4159400-4160600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:4159400-4160600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:4159400-4160600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:4159400-4160600	Strong transcription	Brain Anterior Caudate	brain
46	chr11:4159400-4160600	ZNF genes & repeats	Fetal Kidney	kidney
47	chr11:4159400-4160600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:4159400-4160800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:4159400-4160800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:4159400-4160800	Strong transcription	Primary B cells from peripheral blood	blood

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