Variant report

Variant	esv3450563
Chromosome Location	chr2:149133582-149135530
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	chr2:149134166..149136482-chr2:149845391..149847794,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576133472	chr2:149133625-149133626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536701053	chr2:149133646-149133647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75946299	chr2:149133672-149133673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78365303	chr2:149133694-149133695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542560180	chr2:149133718-149133719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183274921	chr2:149133721-149133722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572758401	chr2:149133765-149133766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546216117	chr2:149133779-149133780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564322764	chr2:149133822-149133823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55953704	chr2:149133841-149133842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11304653	chr2:149133842-149133843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397870699	chr2:149133854-149133855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188733833	chr2:149133871-149133872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527471750	chr2:149133921-149133922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367723484	chr2:149133929-149133930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561563482	chr2:149133993-149133994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6731199	chr2:149134009-149134010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547169379	chr2:149134062-149134063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565672329	chr2:149134120-149134121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544491187	chr2:149134149-149134150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111719341	chr2:149134266-149134267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13419137	chr2:149134308-149134309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112481125	chr2:149134310-149134311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558705480	chr2:149134314-149134315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575580666	chr2:149134329-149134330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192622933	chr2:149134338-149134339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112950732	chr2:149134377-149134378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183382420	chr2:149134383-149134384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370578834	chr2:149134394-149134395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375439019	chr2:149134401-149134402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368350326	chr2:149134404-149134405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377686440	chr2:149134405-149134406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71301705	chr2:149134409-149134410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537164620	chr2:149134457-149134458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555473631	chr2:149134521-149134522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200318689	chr2:149134571-149134572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201269384	chr2:149134599-149134600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56284878	chr2:149134611-149134612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550945638	chr2:149134631-149134632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187549210	chr2:149134668-149134669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191448223	chr2:149134676-149134677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113416735	chr2:149134679-149134680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572821555	chr2:149134681-149134682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184699665	chr2:149134780-149134781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189166190	chr2:149134788-149134789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140123411	chr2:149134800-149134801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192558648	chr2:149134803-149134804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185059197	chr2:149134807-149134808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190347032	chr2:149134817-149134818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547230749	chr2:149134903-149134904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149100800-149137000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:149102800-149136600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:149129000-149135000	Weak transcription	Psoas Muscle	Psoas
4	chr2:149132600-149133600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:149132800-149133600	Enhancers	Fetal Heart	heart
6	chr2:149134000-149136600	Weak transcription	HSMM	muscle

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