Variant report

Variant	esv3392017
Chromosome Location	chr7:137960306-137964419
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	chr7:137956498..137958305-chr7:137960190..137962007,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377216657	chr7:137960315-137960316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374479248	chr7:137960317-137960318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149050274	chr7:137960320-137960321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548997662	chr7:137960392-137960393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568737811	chr7:137960403-137960404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143015743	chr7:137960414-137960415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557445008	chr7:137960452-137960453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577275366	chr7:137960454-137960455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539647033	chr7:137960460-137960461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539519014	chr7:137960491-137960492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553143615	chr7:137960518-137960519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573237329	chr7:137960521-137960522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182159424	chr7:137960531-137960532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187896312	chr7:137960551-137960552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535323252	chr7:137960591-137960592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78110476	chr7:137960597-137960598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192374051	chr7:137960603-137960604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561836358	chr7:137960660-137960661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183175487	chr7:137960706-137960707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377526804	chr7:137960731-137960732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148761838	chr7:137960742-137960743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546856254	chr7:137960785-137960786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188364510	chr7:137960805-137960806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556242843	chr7:137960857-137960858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549026858	chr7:137960874-137960875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569096962	chr7:137960882-137960883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537450721	chr7:137960915-137960916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550914429	chr7:137960935-137960936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58831053	chr7:137960968-137960969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571052122	chr7:137960971-137960972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13229148	chr7:137961005-137961006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184682796	chr7:137961014-137961015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77696959	chr7:137961019-137961020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189736024	chr7:137961051-137961052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4732306	chr7:137961074-137961075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575849597	chr7:137961109-137961110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56037334	chr7:137961151-137961152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558172443	chr7:137961152-137961153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527579040	chr7:137961153-137961154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191294038	chr7:137961154-137961155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183490929	chr7:137961161-137961162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529093360	chr7:137961173-137961174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542766607	chr7:137961191-137961192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562642224	chr7:137961194-137961195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553929646	chr7:137961206-137961207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35177307	chr7:137961332-137961333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373230462	chr7:137961399-137961400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550998340	chr7:137961416-137961417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141485503	chr7:137961417-137961418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189486344	chr7:137961433-137961434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	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
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137947600-137961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137953000-137974000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:137961800-137962000	Enhancers	NH-A	brain
4	chr7:137962200-137963400	Weak transcription	NH-A	brain
5	chr7:137963400-137963800	Enhancers	NH-A	brain
6	chr7:137963600-137963800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:137963800-137973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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