Variant report

Variant	esv13781
Chromosome Location	chr2:112276736-112282808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 300 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552451864	chr2:112276744-112276745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187545441	chr2:112276813-112276814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138713758	chr2:112276823-112276824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193209903	chr2:112276834-112276835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552454804	chr2:112276846-112276847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565505013	chr2:112276871-112276872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367973914	chr2:112276905-112276906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114255962	chr2:112276924-112276925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116490133	chr2:112276925-112276926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185554597	chr2:112276941-112276942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141156436	chr2:112276945-112276946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557544612	chr2:112276953-112276954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116111413	chr2:112276965-112276966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546486931	chr2:112277009-112277010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116363503	chr2:112277035-112277036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372161097	chr2:112277053-112277054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56171875	chr2:112277056-112277057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561976998	chr2:112277076-112277077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78621840	chr2:112277095-112277096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138560122	chr2:112277105-112277106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190805584	chr2:112277111-112277112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116769162	chr2:112277117-112277118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552158881	chr2:112277141-112277142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141978439	chr2:112277199-112277200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73956822	chr2:112277202-112277203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150668555	chr2:112277209-112277210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77534798	chr2:112277222-112277223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192264049	chr2:112277224-112277225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537105749	chr2:112277232-112277233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17775841	chr2:112277257-112277258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113008290	chr2:112277291-112277292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540018320	chr2:112277308-112277309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553323868	chr2:112277337-112277338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11123551	chr2:112277340-112277341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535860185	chr2:112277356-112277357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115046588	chr2:112277370-112277371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149398974	chr2:112277448-112277449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575241541	chr2:112277459-112277460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17842119	chr2:112277492-112277493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183716443	chr2:112277560-112277561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116587116	chr2:112277568-112277569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566602373	chr2:112277607-112277608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559331762	chr2:112277626-112277627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377293251	chr2:112277629-112277630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548199700	chr2:112277654-112277655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561634685	chr2:112277660-112277661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144746384	chr2:112277682-112277683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550626071	chr2:112277687-112277688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188428463	chr2:112277693-112277694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539197208	chr2:112277703-112277704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112268600-112279600	Weak transcription	Placenta	Placenta
2	chr2:112270600-112280600	Weak transcription	Right Ventricle	heart
3	chr2:112270800-112286200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:112271400-112282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:112276000-112277800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:112276400-112277600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:112276600-112277000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:112276600-112277200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:112276600-112277200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:112276600-112277600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:112276800-112277000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:112277000-112279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:112277600-112279800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:112277600-112292600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:112277800-112279600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:112279000-112281600	Enhancers	Liver	Liver
17	chr2:112279000-112282600	Enhancers	HepG2	liver
18	chr2:112279200-112282800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:112279400-112279600	Enhancers	Esophagus	oesophagus
20	chr2:112279400-112280800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:112279400-112281000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:112279400-112281000	Enhancers	Pancreas	Pancrea
23	chr2:112279400-112281000	Enhancers	NHDF-Ad	bronchial
24	chr2:112279400-112282200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:112279400-112282400	Enhancers	NHLF	lung
26	chr2:112279600-112280200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:112279600-112281400	Enhancers	Fetal Muscle Leg	muscle
28	chr2:112279600-112282200	Enhancers	Placenta	Placenta
29	chr2:112279800-112280400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:112279800-112280600	Enhancers	Osteobl	bone
31	chr2:112279800-112280800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:112279800-112280800	Enhancers	Left Ventricle	heart
33	chr2:112279800-112281000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:112279800-112281000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:112279800-112281000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:112280000-112280800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:112280000-112281000	Bivalent Enhancer	Fetal Stomach	stomach
38	chr2:112280000-112281200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:112280200-112280400	Enhancers	Esophagus	oesophagus
40	chr2:112280200-112280600	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:112280200-112280800	Enhancers	Adipose Nuclei	Adipose
42	chr2:112280200-112280800	Enhancers	Fetal Lung	lung
43	chr2:112280200-112281000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:112280200-112281000	Enhancers	Ovary	ovary
45	chr2:112280200-112281000	Enhancers	K562	blood
46	chr2:112280200-112282400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:112280400-112282400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:112280600-112280800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:112280600-112280800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:112280600-112281000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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