Variant report

Variant	esv3506043
Chromosome Location	chr7:144916169-144922467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191772588	chr7:144916414-144916415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182940675	chr7:144916450-144916451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555481830	chr7:144916463-144916464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543785320	chr7:144916501-144916502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186907371	chr7:144916503-144916504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11769365	chr7:144916518-144916519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560852980	chr7:144916520-144916521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540763629	chr7:144916528-144916529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546475608	chr7:144916531-144916532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564182315	chr7:144916537-144916538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79347007	chr7:144916594-144916595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549888687	chr7:144916599-144916600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561815561	chr7:144916603-144916604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62498291	chr7:144916626-144916627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13229449	chr7:144916629-144916630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547049684	chr7:144916657-144916658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539396696	chr7:144916685-144916686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559416002	chr7:144916786-144916787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183487954	chr7:144916812-144916813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540758203	chr7:144916856-144916857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13247481	chr7:144916857-144916858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544218843	chr7:144916861-144916862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559403728	chr7:144916862-144916863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573741352	chr7:144916895-144916896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536052410	chr7:144916902-144916903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554120031	chr7:144916911-144916912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368389276	chr7:144916923-144916924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75035531	chr7:144916947-144916948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546211977	chr7:144916954-144916955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564416610	chr7:144916989-144916990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376716903	chr7:144921030-144921031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369758051	chr7:144921034-144921035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114821471	chr7:144921093-144921094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554793611	chr7:144921150-144921151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550695378	chr7:144921195-144921196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185064755	chr7:144921200-144921201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532654859	chr7:144921212-144921213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572942428	chr7:144921248-144921249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559518206	chr7:144921402-144921403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540555178	chr7:144921412-144921413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564814860	chr7:144921446-144921447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115792797	chr7:144921475-144921476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189057344	chr7:144921546-144921547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562247016	chr7:144921553-144921554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547772936	chr7:144921577-144921578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529787706	chr7:144921666-144921667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547972640	chr7:144921675-144921676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192271282	chr7:144921677-144921678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528659529	chr7:144921697-144921698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547296359	chr7:144921724-144921725	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144916400-144917000	Enhancers	Adipose Nuclei	Adipose
2	chr7:144916600-144916800	Enhancers	Right Atrium	heart
3	chr7:144921000-144923000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:144921200-144922400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:144921600-144922000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:144921600-144922800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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