Variant report

Variant	esv2762279
Chromosome Location	chr2:124827023-124840027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1213950	chr2:124827023-124827024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189803465	chr2:124827051-124827052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116654832	chr2:124827094-124827095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564847124	chr2:124827132-124827133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201268234	chr2:124827137-124827138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11885688	chr2:124827181-124827182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114463462	chr2:124827185-124827186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557212335	chr2:124827195-124827196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529981563	chr2:124827236-124827237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532148951	chr2:124827267-124827268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2420439	chr2:124827285-124827286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115047334	chr2:124827292-124827293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182795902	chr2:124827345-124827346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144165383	chr2:124827379-124827380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536431319	chr2:124827380-124827381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569283512	chr2:124827392-124827393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575096823	chr2:124832830-124832831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180893155	chr2:124832834-124832835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553128329	chr2:124832842-124832843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112869072	chr2:124832848-124832849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79047004	chr2:124832873-124832874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567606903	chr2:124832892-124832893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530759966	chr2:124832895-124832896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544109437	chr2:124832900-124832901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185150398	chr2:124832904-124832905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529860947	chr2:124832920-124832921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546666294	chr2:124832953-124832954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566884836	chr2:124832961-124832962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532525819	chr2:124832972-124832973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552334621	chr2:124832985-124832986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538177606	chr2:124832997-124832998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534609953	chr2:124833019-124833020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58790623	chr2:124833022-124833023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548917107	chr2:124833023-124833024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568644500	chr2:124833079-124833080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371067319	chr2:124833104-124833105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534425293	chr2:124833176-124833177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561068678	chr2:124833192-124833193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73954518	chr2:124833231-124833232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374473979	chr2:124833252-124833253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145922855	chr2:124833253-124833254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189416572	chr2:124833276-124833277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544071999	chr2:124833296-124833297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560876250	chr2:124833304-124833305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574277409	chr2:124833307-124833308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73954520	chr2:124833321-124833322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73954521	chr2:124833338-124833339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532452684	chr2:124833356-124833357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181453667	chr2:124833363-124833364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186421033	chr2:124833377-124833378	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:124826800-124827400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:124832800-124833400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:124834600-124835400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:124835400-124838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:124836600-124839600	Enhancers	Fetal Intestine Small	intestine
6	chr2:124836800-124837800	Enhancers	Fetal Intestine Large	intestine
7	chr2:124837400-124838600	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:124837800-124839200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:124838000-124839400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:124838200-124839400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:124838600-124839200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:124838800-124839200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:124838800-124839400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:124839000-124839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:124839200-124839600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:124839200-124839600	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:124839200-124839600	Enhancers	Fetal Intestine Large	intestine

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