Variant report

Variant	nsv518928
Chromosome Location	chr2:205084439-205090645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572237199	chr2:205086074-205086075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533395714	chr2:205086078-205086079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545187524	chr2:205086104-205086105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546042516	chr2:205086116-205086117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564302814	chr2:205086117-205086118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114715191	chr2:205086119-205086120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2162004	chr2:205086122-205086123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138928323	chr2:205086127-205086128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188762792	chr2:205086140-205086141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548987755	chr2:205086141-205086142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142136322	chr2:205086151-205086152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150890935	chr2:205086176-205086177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374372101	chr2:205086185-205086186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55794335	chr2:205086216-205086217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75665298	chr2:205086241-205086242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112261681	chr2:205086257-205086258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116005925	chr2:205086275-205086276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139397980	chr2:205086302-205086303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562113675	chr2:205086331-205086332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546528469	chr2:205086342-205086343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531222939	chr2:205086381-205086382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571561166	chr2:205086415-205086416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574735142	chr2:205086447-205086448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193066872	chr2:205086495-205086496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531112331	chr2:205086496-205086497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554213324	chr2:205086508-205086509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185842672	chr2:205086547-205086548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572552258	chr2:205086567-205086568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546355944	chr2:205086581-205086582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189344021	chr2:205086702-205086703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538874077	chr2:205086734-205086735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74526501	chr2:205086736-205086737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543658941	chr2:205086744-205086745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547720063	chr2:205086815-205086816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561848373	chr2:205086853-205086854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570190753	chr2:205086854-205086855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375508036	chr2:205086872-205086873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116145957	chr2:205086911-205086912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558956882	chr2:205086931-205086932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532852972	chr2:205086945-205086946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551109042	chr2:205086957-205086958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149648889	chr2:205086980-205086981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531823007	chr2:205087016-205087017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550415051	chr2:205087018-205087019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191131526	chr2:205087074-205087075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143852850	chr2:205087134-205087135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369679927	chr2:205087136-205087137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140316124	chr2:205087147-205087148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183679686	chr2:205087203-205087204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116824304	chr2:205087249-205087250	Weak transcription	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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205086000-205086600	Enhancers	Placenta	Placenta
2	chr2:205086200-205086400	Enhancers	Fetal Muscle Leg	muscle
3	chr2:205086400-205087400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:205086600-205090800	Weak transcription	Aorta	Aorta
5	chr2:205087400-205089600	Enhancers	Fetal Muscle Leg	muscle
6	chr2:205088000-205088400	Enhancers	Fetal Brain Female	brain
7	chr2:205088200-205088800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr2:205088200-205088800	Enhancers	Gastric	stomach
9	chr2:205088400-205088600	Bivalent Enhancer	HSMMtube	muscle
10	chr2:205088400-205092800	Weak transcription	Fetal Brain Female	brain
11	chr2:205088400-205093200	Enhancers	Brain Germinal Matrix	brain
12	chr2:205088800-205089200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:205088800-205091000	Weak transcription	Gastric	stomach
14	chr2:205089000-205089400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:205089000-205089800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:205089000-205089800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:205089000-205093000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:205089200-205089400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:205089200-205089600	Enhancers	Fetal Lung	lung
20	chr2:205089200-205089800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr2:205089400-205089600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:205089400-205089600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:205089600-205090600	Weak transcription	Fetal Lung	lung
24	chr2:205089600-205090800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:205089600-205091000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:205089600-205093000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:205090000-205090400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr2:205090200-205090400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:205090200-205091400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:205090400-205091000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:205090400-205091200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:205090400-205091600	Enhancers	Colon Smooth Muscle	Colon
33	chr2:205090400-205091600	Enhancers	Fetal Kidney	kidney
34	chr2:205090600-205091200	Enhancers	Fetal Lung	lung
35	chr2:205090600-205091600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:205090600-205091600	Enhancers	Fetal Brain Male	brain
37	chr2:205090600-205091800	Enhancers	Stomach Mucosa	stomach

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