Variant report

Variant	esv3460369
Chromosome Location	chr2:180417407-180424005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 231 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs575286457	chr2:180417466-180417467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535156009	chr2:180417519-180417520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71425636	chr2:180417598-180417599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576433309	chr2:180417628-180417629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562674960	chr2:180417734-180417735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144959672	chr2:180417777-180417778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149074206	chr2:180417779-180417780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370026508	chr2:180417797-180417798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556925948	chr2:180417820-180417821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185973569	chr2:180417873-180417874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540940948	chr2:180417929-180417930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373471286	chr2:180417930-180417931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191828101	chr2:180417933-180417934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532551925	chr2:180417939-180417940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116615722	chr2:180417951-180417952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56077557	chr2:180417976-180417977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183168626	chr2:180418009-180418010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543573249	chr2:180418038-180418039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562891252	chr2:180418204-180418205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143135241	chr2:180418209-180418210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548641575	chr2:180418213-180418214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567366103	chr2:180418242-180418243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565057198	chr2:180418287-180418288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546494486	chr2:180418315-180418316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148256733	chr2:180418399-180418400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538539200	chr2:180418414-180418415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558304361	chr2:180418492-180418493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575157270	chr2:180418497-180418498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541745818	chr2:180418566-180418567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537567594	chr2:180418594-180418595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558005156	chr2:180418730-180418731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372257414	chr2:180418795-180418796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575093143	chr2:180418802-180418803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71425637	chr2:180418811-180418812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73976405	chr2:180418840-180418841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78994047	chr2:180418843-180418844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371925049	chr2:180418891-180418892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562771725	chr2:180418897-180418898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549536044	chr2:180418970-180418971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531701838	chr2:180418982-180418983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548404415	chr2:180419062-180419063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186337668	chr2:180419072-180419073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376243058	chr2:180419090-180419091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111703411	chr2:180419115-180419116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546431211	chr2:180419116-180419117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566317224	chr2:180419186-180419187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190786526	chr2:180419200-180419201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552421860	chr2:180419225-180419226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568777920	chr2:180419238-180419239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537805074	chr2:180419244-180419245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
3	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180416200-180420400	Weak transcription	Fetal Brain Female	brain
5	chr2:180416600-180420000	Weak transcription	Liver	Liver
6	chr2:180416600-180421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:180416800-180420000	Weak transcription	HepG2	liver
8	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:180417200-180423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:180417400-180418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:180418600-180418800	Weak transcription	Fetal Kidney	kidney
12	chr2:180418600-180419000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:180418800-180419000	Enhancers	Fetal Kidney	kidney
14	chr2:180419000-180422400	Weak transcription	Fetal Kidney	kidney
15	chr2:180419000-180422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:180420000-180420200	Enhancers	Liver	Liver
17	chr2:180420000-180422000	Enhancers	HepG2	liver
18	chr2:180420200-180420600	Weak transcription	Liver	Liver
19	chr2:180420400-180420600	Active TSS	Fetal Brain Female	brain
20	chr2:180420400-180420800	Active TSS	Right Atrium	heart
21	chr2:180420600-180420800	Enhancers	Liver	Liver
22	chr2:180420600-180420800	Flanking Active TSS	Fetal Brain Female	brain
23	chr2:180420600-180421400	Enhancers	Psoas Muscle	Psoas
24	chr2:180420600-180421600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:180420600-180421600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:180420600-180422000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:180420800-180422400	Weak transcription	Liver	Liver
28	chr2:180420800-180425800	Weak transcription	Right Atrium	heart
29	chr2:180421400-180423400	Weak transcription	Psoas Muscle	Psoas
30	chr2:180421600-180426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:180422000-180422200	Flanking Active TSS	HepG2	liver
32	chr2:180422000-180422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:180422200-180422400	Enhancers	HepG2	liver
34	chr2:180422400-180423000	Enhancers	Liver	Liver
35	chr2:180422400-180423200	Enhancers	Fetal Kidney	kidney
36	chr2:180422400-180423800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:180422400-180423800	Flanking Active TSS	HepG2	liver
38	chr2:180422600-180423000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:180422600-180423000	Enhancers	Fetal Lung	lung
40	chr2:180422600-180423200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:180422600-180423600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:180422600-180423600	Enhancers	Fetal Intestine Small	intestine
43	chr2:180422600-180423800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:180422600-180423800	Enhancers	Fetal Intestine Large	intestine
45	chr2:180422800-180423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:180422800-180423200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:180422800-180423400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:180422800-180423600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:180422800-180423600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:180422800-180424200	Enhancers	Gastric	stomach

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