Variant report

Variant	esv19517
Chromosome Location	chr2:87271457-87275585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540523476	chr2:87271508-87271509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565134879	chr2:87271794-87271795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554597942	chr2:87271802-87271803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576987839	chr2:87271911-87271912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71226525	chr2:87271929-87271930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562478241	chr2:87271946-87271947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202225050	chr2:87271963-87271964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541473888	chr2:87272080-87272081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559710096	chr2:87272087-87272088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200289316	chr2:87272117-87272118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377149676	chr2:87272164-87272165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572925321	chr2:87272205-87272206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200760823	chr2:87272224-87272225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552452462	chr2:87272225-87272226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571095906	chr2:87272354-87272355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552163923	chr2:87272667-87272668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531824831	chr2:87273190-87273191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550330976	chr2:87273203-87273204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79742084	chr2:87273245-87273246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568489286	chr2:87273247-87273248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535940025	chr2:87273249-87273250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554248247	chr2:87273267-87273268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566087289	chr2:87273302-87273303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539816255	chr2:87273317-87273318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558908193	chr2:87273329-87273330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577053098	chr2:87273441-87273442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544106432	chr2:87273449-87273450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200045841	chr2:87273627-87273628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59818220	chr2:87273631-87273632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556323119	chr2:87273665-87273666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62144367	chr2:87273962-87273963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200930026	chr2:87275215-87275216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62144368	chr2:87275280-87275281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541535853	chr2:87275317-87275318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559772154	chr2:87275342-87275343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200496787	chr2:87275401-87275402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368839807	chr2:87275470-87275471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62144400	chr2:87275494-87275495	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs545357559	chr2:87275562-87275563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564657648	chr2:87275581-87275582	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:10 , 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
7	chr2:87275000-87277200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:87275200-87281000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:87275200-87283000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:87275400-87277200	Weak transcription	Fetal Thymus	thymus

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