Variant report

Variant	esv3437188
Chromosome Location	chr7:146780269-146782517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EZH2-4	chr7:146779632-146780313	ENSG00000236795.1

Extended variants
information (count: 122 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149315113	chr7:146780354-146780355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538008271	chr7:146780370-146780371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572562050	chr7:146780397-146780398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548540617	chr7:146780405-146780406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62481805	chr7:146780421-146780422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373109903	chr7:146780428-146780429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533985982	chr7:146780483-146780484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555654111	chr7:146780524-146780525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570717089	chr7:146780527-146780528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539938127	chr7:146780536-146780537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556211771	chr7:146780537-146780538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576258081	chr7:146780586-146780587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574010056	chr7:146780615-146780616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371129006	chr7:146780627-146780628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11973013	chr7:146780629-146780630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149509555	chr7:146780630-146780631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200639572	chr7:146780631-146780632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11977324	chr7:146780633-146780634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369256512	chr7:146780638-146780639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398006710	chr7:146780640-146780641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11979660	chr7:146780642-146780643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372990110	chr7:146780644-146780645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11976605	chr7:146780646-146780647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13312109	chr7:146780655-146780656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13310569	chr7:146780659-146780660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13310773	chr7:146780666-146780667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13310208	chr7:146780668-146780669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572694589	chr7:146780669-146780670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556142406	chr7:146780670-146780671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11976607	chr7:146780672-146780673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199678439	chr7:146780679-146780680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146451730	chr7:146780690-146780691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13312150	chr7:146780707-146780708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531975889	chr7:146780725-146780726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13310250	chr7:146780729-146780730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112223137	chr7:146780739-146780740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13312156	chr7:146780752-146780753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13310622	chr7:146780754-146780755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200850891	chr7:146780767-146780768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553695552	chr7:146780785-146780786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184679306	chr7:146780793-146780794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376452864	chr7:146780796-146780797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13310870	chr7:146780804-146780805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186898116	chr7:146780805-146780806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191312978	chr7:146780824-146780825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527595075	chr7:146780850-146780851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149432217	chr7:146780854-146780855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570848570	chr7:146780866-146780867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144826071	chr7:146780873-146780874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556273197	chr7:146780931-146780932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146777200-146780400	Enhancers	Fetal Brain Male	brain
2	chr7:146779200-146782400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:146779600-146781400	Weak transcription	Stomach Mucosa	stomach
4	chr7:146780200-146780400	Enhancers	Pancreas	Pancrea
5	chr7:146780400-146785600	Weak transcription	Fetal Brain Male	brain
6	chr7:146782400-146782600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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