Variant report

Variant	esv3331780
Chromosome Location	chr1:191544954-191547377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370468982	chr1:191544985-191544986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72727104	chr1:191544992-191544993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541348349	chr1:191544994-191544995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192878754	chr1:191545025-191545026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533199981	chr1:191545036-191545037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140072129	chr1:191545061-191545062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562651652	chr1:191545072-191545073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531571589	chr1:191545097-191545098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548194658	chr1:191545125-191545126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572004288	chr1:191545160-191545161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185046490	chr1:191545165-191545166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527957934	chr1:191545197-191545198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548117692	chr1:191545285-191545286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201507972	chr1:191545336-191545337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570950125	chr1:191545413-191545414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187807530	chr1:191545463-191545464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150306624	chr1:191545569-191545570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538955347	chr1:191545633-191545634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554393000	chr1:191545681-191545682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572554944	chr1:191545701-191545702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569788219	chr1:191545703-191545704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138311526	chr1:191545712-191545713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560668999	chr1:191545730-191545731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572034005	chr1:191545831-191545832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558795639	chr1:191545970-191545971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199698415	chr1:191545989-191545990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374693571	chr1:191545990-191545991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369756051	chr1:191545994-191545995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373529902	chr1:191545997-191545998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77244553	chr1:191546002-191546003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192423310	chr1:191546012-191546013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115820346	chr1:191546021-191546022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77361135	chr1:191546035-191546036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558071738	chr1:191546061-191546062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577722696	chr1:191546062-191546063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543236374	chr1:191546118-191546119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs68072836	chr1:191546131-191546132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183849781	chr1:191546155-191546156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554040117	chr1:191546162-191546163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546107534	chr1:191546167-191546168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143060469	chr1:191546185-191546186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541949057	chr1:191546228-191546229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531920144	chr1:191546231-191546232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561934645	chr1:191546239-191546240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145085533	chr1:191546244-191546245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371630373	chr1:191546248-191546249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562147831	chr1:191546253-191546254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548280547	chr1:191546258-191546259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188991292	chr1:191546365-191546366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181598128	chr1:191546410-191546411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191542600-191545000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:191544200-191545000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:191544200-191545000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:191544200-191545000	Enhancers	NH-A	brain
5	chr1:191544400-191545200	Enhancers	Ovary	ovary
6	chr1:191544400-191545400	Enhancers	K562	blood
7	chr1:191544800-191545600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:191545000-191545400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:191545000-191545400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:191545000-191545400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:191545000-191545400	Enhancers	Fetal Kidney	kidney
12	chr1:191545000-191545600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:191545400-191546600	Weak transcription	K562	blood
14	chr1:191545600-191546400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191546400-191550400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:191546600-191546800	Enhancers	K562	blood

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