Variant report

Variant	esv1793199
Chromosome Location	chr2:87258211-87274845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs561724153	chr2:87258818-87258819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529602491	chr2:87258819-87258820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541722858	chr2:87258888-87258889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560040852	chr2:87258904-87258905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533589572	chr2:87258909-87258910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551970571	chr2:87258915-87258916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570198851	chr2:87258930-87258931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201481007	chr2:87258977-87258978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531011193	chr2:87259029-87259030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549155164	chr2:87259033-87259034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567640791	chr2:87259150-87259151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534669939	chr2:87259253-87259254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553650987	chr2:87259271-87259272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199971137	chr2:87259292-87259293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539263246	chr2:87259339-87259340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557512718	chr2:87259347-87259348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200586811	chr2:87259357-87259358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576105807	chr2:87259380-87259381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537142427	chr2:87259734-87259735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62148355	chr2:87259752-87259753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573588597	chr2:87259822-87259823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540642418	chr2:87259915-87259916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368206274	chr2:87259920-87259921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181292133	chr2:87259966-87259967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138352838	chr2:87259988-87259989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560897522	chr2:87260008-87260009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545646448	chr2:87260108-87260109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563868035	chr2:87260109-87260110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530946970	chr2:87260120-87260121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572962039	chr2:87260129-87260130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549464712	chr2:87260130-87260131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561177816	chr2:87260143-87260144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528505307	chr2:87260188-87260189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546553628	chr2:87260195-87260196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565670309	chr2:87260208-87260209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539346346	chr2:87260228-87260229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71240344	chr2:87260229-87260230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551205222	chr2:87260266-87260267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62144360	chr2:87260350-87260351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115399885	chr2:87260408-87260409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555460654	chr2:87260442-87260443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573620599	chr2:87260443-87260444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534639812	chr2:87260475-87260476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552983435	chr2:87260478-87260479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199526568	chr2:87260509-87260510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545705572	chr2:87260529-87260530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563931214	chr2:87260576-87260577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575798198	chr2:87260581-87260582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542822501	chr2:87260594-87260595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185986377	chr2:87260625-87260626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87258800-87283200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:87259200-87281600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:87268600-87280600	Weak transcription	Colonic Mucosa	Colon
4	chr2:87271800-87277200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:87271800-87277600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:87271800-87282200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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