Variant report

Variant	esv3369966
Chromosome Location	chr2:114867182-114869130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140052797	chr2:114867225-114867226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115474910	chr2:114867233-114867234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181951777	chr2:114867238-114867239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570964014	chr2:114867269-114867270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59349616	chr2:114867290-114867291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553626127	chr2:114867368-114867369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567237639	chr2:114867371-114867372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535893990	chr2:114867382-114867383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72956294	chr2:114867411-114867412	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565680779	chr2:114867480-114867481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145384772	chr2:114867498-114867499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545181754	chr2:114867525-114867526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558783656	chr2:114867566-114867567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572189258	chr2:114867568-114867569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369473672	chr2:114867655-114867656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540709368	chr2:114867681-114867682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560413494	chr2:114867689-114867690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529259476	chr2:114867707-114867708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542671456	chr2:114867708-114867709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562802534	chr2:114867712-114867713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72956297	chr2:114867742-114867743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11366625	chr2:114867819-114867820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398042600	chr2:114867830-114867831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189282356	chr2:114867832-114867833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116113225	chr2:114867843-114867844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544597819	chr2:114867877-114867878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377727038	chr2:114867906-114867907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202214685	chr2:114867925-114867926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112684564	chr2:114867926-114867927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71852406	chr2:114867927-114867928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200257030	chr2:114867928-114867929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369362961	chr2:114867929-114867930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373233030	chr2:114867930-114867931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574977201	chr2:114867940-114867941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71925521	chr2:114867942-114867943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373046080	chr2:114867943-114867944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376762340	chr2:114867954-114867955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375610626	chr2:114867957-114867958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536129889	chr2:114867966-114867967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181235722	chr2:114867980-114867981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201959899	chr2:114867983-114867984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560639155	chr2:114867984-114867985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72374725	chr2:114867997-114867998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186507750	chr2:114868005-114868006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191817259	chr2:114868006-114868007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369913364	chr2:114868018-114868019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373126663	chr2:114868022-114868023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71420250	chr2:114868036-114868037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554400939	chr2:114868062-114868063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376588184	chr2:114868063-114868064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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	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
Chronic lymphocytic leukemia	21546498	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
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114865400-114867400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:114866000-114867200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:114866000-114867400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:114866000-114867400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:114866000-114867600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:114866200-114867400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:114866200-114867400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:114866200-114867400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:114866400-114867400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:114866400-114867400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:114866400-114867400	Enhancers	Aorta	Aorta
12	chr2:114866600-114867200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:114866600-114867400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:114866600-114867400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:114866800-114867200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:114866800-114867200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:114867400-114870800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:114867600-114870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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