Variant report

Variant	esv3459893
Chromosome Location	chr2:178855363-178857297
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: 75 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373240211	chr2:178855424-178855425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576535095	chr2:178855425-178855426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187199821	chr2:178855426-178855427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71410785	chr2:178855464-178855465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150823033	chr2:178855473-178855474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71010847	chr2:178855478-178855479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376472143	chr2:178855519-178855520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572768632	chr2:178855539-178855540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540278791	chr2:178855545-178855546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560149312	chr2:178855584-178855585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532247955	chr2:178855591-178855592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191420156	chr2:178855592-178855593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562582093	chr2:178855601-178855602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71423534	chr2:178855622-178855623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547969358	chr2:178855661-178855662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568059164	chr2:178855676-178855677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527533499	chr2:178855677-178855678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547399310	chr2:178855678-178855679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570480349	chr2:178855682-178855683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539946293	chr2:178855699-178855700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556413441	chr2:178855700-178855701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570120519	chr2:178855707-178855708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535710867	chr2:178855736-178855737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183895824	chr2:178855765-178855766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199999663	chr2:178855789-178855790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112405294	chr2:178855811-178855812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376506236	chr2:178855849-178855850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541710921	chr2:178855851-178855852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13022267	chr2:178855882-178855883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147209409	chr2:178855955-178855956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545765483	chr2:178855990-178855991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562482090	chr2:178856024-178856025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531429886	chr2:178856078-178856079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558085164	chr2:178856164-178856165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200043216	chr2:178856182-178856183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567538490	chr2:178856222-178856223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527598719	chr2:178856328-178856329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547263683	chr2:178856338-178856339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188714165	chr2:178856368-178856369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79361463	chr2:178856369-178856370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6761951	chr2:178856395-178856396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193222628	chr2:178856406-178856407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71405976	chr2:178856428-178856429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13023495	chr2:178856430-178856431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185651421	chr2:178856442-178856443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190065362	chr2:178856474-178856475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535208906	chr2:178856493-178856494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35631376	chr2:178856512-178856513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558522040	chr2:178856521-178856522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578187672	chr2:178856603-178856604	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:4 , 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

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