Variant report

Variant	esv14075
Chromosome Location	chr2:133152439-133153329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:133153165..133154899-chr2:133171288..133174191,2	MCF-7	breast:
2	chr2:133152507..133155415-chr2:133160169..133163042,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183840	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563558772	chr2:133152440-133152441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557815496	chr2:133152446-133152447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141272428	chr2:133152452-133152453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533806435	chr2:133152472-133152473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200790896	chr2:133152504-133152505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202006657	chr2:133152505-133152506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562023158	chr2:133152520-133152521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530138791	chr2:133152527-133152528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555620625	chr2:133152528-133152529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114246947	chr2:133152532-133152533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370594194	chr2:133152540-133152541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544357420	chr2:133152549-133152550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145027055	chr2:133152562-133152563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138809018	chr2:133152565-133152566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544977336	chr2:133152581-133152582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72997296	chr2:133152597-133152598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560880089	chr2:133152601-133152602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542924859	chr2:133152609-133152610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11684939	chr2:133152621-133152622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531776068	chr2:133152623-133152624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189629107	chr2:133152637-133152638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34546567	chr2:133152648-133152649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35390952	chr2:133152651-133152652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370004750	chr2:133152704-133152705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373842825	chr2:133152705-133152706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571404343	chr2:133152770-133152771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11684988	chr2:133152778-133152779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547780984	chr2:133152785-133152786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552848458	chr2:133152840-133152841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117772173	chr2:133152841-133152842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34302274	chr2:133152842-133152843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571113839	chr2:133152843-133152844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563571648	chr2:133152848-133152849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141889247	chr2:133152902-133152903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181229798	chr2:133152938-133152939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111863810	chr2:133152947-133152948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113795194	chr2:133152948-133152949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138073509	chr2:133152998-133152999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368186083	chr2:133152999-133153000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116012033	chr2:133153015-133153016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs577674341	chr2:133153028-133153029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs149513490	chr2:133153029-133153030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372766746	chr2:133153030-133153031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs184280228	chr2:133153036-133153037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs116356808	chr2:133153054-133153055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571913848	chr2:133153058-133153059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542950372	chr2:133153071-133153072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs377316669	chr2:133153079-133153080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576276523	chr2:133153087-133153088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs116811920	chr2:133153116-133153117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133149200-133153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:133151400-133160600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133153000-133153200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:133153200-133154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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