Variant report

Variant	esv3392043
Chromosome Location	chr2:178216111-178216563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561646643	chr2:178216116-178216117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200455145	chr2:178216122-178216123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113009866	chr2:178216123-178216124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74208699	chr2:178216141-178216142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201273143	chr2:178216146-178216147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200453827	chr2:178216187-178216188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530452350	chr2:178216191-178216192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548892509	chr2:178216193-178216194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370955257	chr2:178216198-178216199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369602420	chr2:178216199-178216200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140880113	chr2:178216241-178216242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373452812	chr2:178216248-178216249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111494119	chr2:178216266-178216267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370372417	chr2:178216324-178216325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113686449	chr2:178216366-178216367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9712229	chr2:178216375-178216376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9712230	chr2:178216377-178216378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9712241	chr2:178216385-178216386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9711376	chr2:178216390-178216391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527886840	chr2:178216421-178216422	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372828582	chr2:178216425-178216426	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370136463	chr2:178216460-178216461	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201912643	chr2:178216466-178216467	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13029632	chr2:178216488-178216489	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201365468	chr2:178216506-178216507	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552699806	chr2:178216513-178216514	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570876253	chr2:178216518-178216519	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200281462	chr2:178216525-178216526	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370740831	chr2:178216526-178216527	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538311623	chr2:178216532-178216533	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143286309	chr2:178216547-178216548	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:178202200-178217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:178203200-178216400	Weak transcription	HSMMtube	muscle
8	chr2:178203200-178217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:178203400-178217000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:178203400-178244400	Weak transcription	HSMM	muscle
11	chr2:178203800-178221600	Weak transcription	A549	lung
12	chr2:178210600-178218000	Enhancers	HepG2	liver
13	chr2:178211800-178217400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:178212000-178224400	Weak transcription	Fetal Heart	heart
15	chr2:178212600-178218000	Enhancers	Colon Smooth Muscle	Colon
16	chr2:178213000-178217400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:178213600-178217200	Enhancers	Esophagus	oesophagus
20	chr2:178213600-178218400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:178213800-178216600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:178213800-178217400	Weak transcription	Fetal Kidney	kidney
23	chr2:178214000-178216600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:178214200-178220400	Weak transcription	Brain Substantia Nigra	brain
25	chr2:178214400-178216400	Weak transcription	Right Atrium	heart
26	chr2:178214400-178216600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:178214400-178216600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:178214400-178219800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:178214400-178220400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:178214400-178228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:178214600-178217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:178214800-178220400	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:178214800-178221400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:178215000-178218400	Enhancers	Adipose Nuclei	Adipose
35	chr2:178215200-178216600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:178215200-178217600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:178215200-178217800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:178215200-178218200	Enhancers	Fetal Stomach	stomach
39	chr2:178215400-178216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:178215400-178216600	Weak transcription	Placenta	Placenta
41	chr2:178215400-178216800	Weak transcription	Lung	lung
42	chr2:178215400-178220200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:178215600-178216400	Weak transcription	Pancreas	Pancrea
44	chr2:178215600-178217400	Enhancers	NHEK	skin
45	chr2:178215800-178216800	Enhancers	Ovary	ovary
46	chr2:178215800-178217200	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:178215800-178217400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:178216000-178216200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:178216000-178216400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:178216000-178217200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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