Variant report

Variant	esv3320844
Chromosome Location	chr1:175411393-175412254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529572136	chr1:175411396-175411397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533853310	chr1:175411407-175411408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183116221	chr1:175411412-175411413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77108016	chr1:175411441-175411442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77404983	chr1:175411442-175411443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535865119	chr1:175411444-175411445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555769153	chr1:175411464-175411465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10912981	chr1:175411465-175411466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs113753992	chr1:175411477-175411478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116280519	chr1:175411479-175411480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371055517	chr1:175411481-175411482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113042666	chr1:175411561-175411562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578105425	chr1:175411572-175411573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535878898	chr1:175411605-175411606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375612007	chr1:175411626-175411627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540771953	chr1:175411653-175411654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115229002	chr1:175411696-175411697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34166974	chr1:175411705-175411706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138968182	chr1:175411732-175411733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs859465	chr1:175411763-175411764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575977330	chr1:175411789-175411790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530751457	chr1:175411807-175411808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs859464	chr1:175411819-175411820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564353088	chr1:175411833-175411834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188484946	chr1:175411865-175411866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546734787	chr1:175411873-175411874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76318749	chr1:175411908-175411909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs860907	chr1:175411912-175411913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35357711	chr1:175411950-175411951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192731772	chr1:175411963-175411964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12565878	chr1:175411978-175411979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs564625064	chr1:175412054-175412055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577994150	chr1:175412064-175412065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558167456	chr1:175412075-175412076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183428867	chr1:175412103-175412104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187969157	chr1:175412110-175412111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554317209	chr1:175412128-175412129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572633678	chr1:175412192-175412193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191395354	chr1:175412203-175412204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175400000-175413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:175410800-175411600	Enhancers	Fetal Brain Male	brain
3	chr1:175411600-175414800	Weak transcription	Fetal Brain Male	brain

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