Variant report

Variant	esv3458760
Chromosome Location	chr2:178857904-178859153
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	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:
2	chr2:178834171..178836909-chr2:178857022..178858774,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529340218	chr2:178857917-178857918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549387986	chr2:178857924-178857925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559930382	chr2:178857925-178857926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78884276	chr2:178857945-178857946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150927533	chr2:178857946-178857947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571776577	chr2:178857972-178857973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34234621	chr2:178858075-178858076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs71410786	chr2:178858095-178858096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386391948	chr2:178858096-178858097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551286726	chr2:178858100-178858101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567606958	chr2:178858101-178858102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200888420	chr2:178858111-178858112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535123108	chr2:178858179-178858180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372559646	chr2:178858193-178858194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571811176	chr2:178858206-178858207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375627039	chr2:178858228-178858229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34510795	chr2:178858235-178858236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530228541	chr2:178858258-178858259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577795709	chr2:178858274-178858275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140765950	chr2:178858336-178858337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200605442	chr2:178858339-178858340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557262364	chr2:178858378-178858379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182273617	chr2:178858444-178858445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573979365	chr2:178858446-178858447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144530652	chr2:178858492-178858493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146622175	chr2:178858548-178858549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75182864	chr2:178858553-178858554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141354634	chr2:178858556-178858557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538493957	chr2:178858613-178858614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565215051	chr2:178858630-178858631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371354386	chr2:178858639-178858640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4893994	chr2:178858651-178858652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565674411	chr2:178858652-178858653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567666264	chr2:178858653-178858654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10622468	chr2:178858663-178858664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs33947390	chr2:178858664-178858665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397944922	chr2:178858680-178858681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370995516	chr2:178858681-178858682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187188344	chr2:178858731-178858732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554157254	chr2:178858751-178858752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13017026	chr2:178858756-178858757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368906930	chr2:178858807-178858808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370527004	chr2:178858840-178858841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190473728	chr2:178858875-178858876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75551420	chr2:178858877-178858878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374865558	chr2:178858905-178858906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571245230	chr2:178858940-178858941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537297789	chr2:178858981-178858982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367572807	chr2:178858995-178858996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75561239	chr2:178859013-178859014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178854600-178861400	Weak transcription	A549	lung
2	chr2:178854800-178861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:178855000-178861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:178859000-178859600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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