Variant report

Variant	esv2592119
Chromosome Location	chr2:133873134-133874626
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	chr2:133865556..133868534-chr2:133870878..133873548,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574477541	chr2:133873144-133873145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189700704	chr2:133873148-133873149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7561911	chr2:133873181-133873182	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143970082	chr2:133873184-133873185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142485898	chr2:133873349-133873350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200682796	chr2:133873350-133873351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10683280	chr2:133873390-133873391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141741244	chr2:133873395-133873396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145205403	chr2:133873396-133873397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144820743	chr2:133873397-133873398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555941818	chr2:133873415-133873416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560108108	chr2:133873459-133873460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545652625	chr2:133873595-133873596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554424239	chr2:133873663-133873664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572649245	chr2:133873788-133873789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543347473	chr2:133873789-133873790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370321568	chr2:133873835-133873836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71413532	chr2:133873892-133873893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557692836	chr2:133873964-133873965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572961931	chr2:133873974-133873975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575995276	chr2:133873978-133873979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543402411	chr2:133873985-133873986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77211689	chr2:133874062-133874063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201308766	chr2:133874082-133874083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13402433	chr2:133874087-133874088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11682544	chr2:133874089-133874090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370338021	chr2:133874090-133874091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564857455	chr2:133874102-133874103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114594223	chr2:133874154-133874155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547054502	chr2:133874164-133874165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72842454	chr2:133874212-133874213	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529789800	chr2:133874225-133874226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548085481	chr2:133874264-133874265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569932143	chr2:133874381-133874382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537883663	chr2:133874433-133874434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368053956	chr2:133874437-133874438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13402839	chr2:133874442-133874443	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149526783	chr2:133874443-133874444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571519595	chr2:133874449-133874450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386650751	chr2:133874471-133874472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114254797	chr2:133874473-133874474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4953871	chr2:133874478-133874479	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4953872	chr2:133874496-133874497	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148631521	chr2:133874564-133874565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548699388	chr2:133874600-133874601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4954026	chr2:133874601-133874602	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133854800-133892000	Weak transcription	Left Ventricle	heart
2	chr2:133867800-133877000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133868000-133885200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:133868000-133888200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:133868200-133883600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:133871400-133876200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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