Variant report

Variant	esv3451417
Chromosome Location	chr7:150192334-150195371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs562217595	chr7:150192336-150192337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531453069	chr7:150192356-150192357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201080687	chr7:150192359-150192360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547861623	chr7:150192376-150192377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568076131	chr7:150192393-150192394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533842036	chr7:150192399-150192400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202045503	chr7:150192402-150192403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547710070	chr7:150192403-150192404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200180815	chr7:150192408-150192409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200794707	chr7:150192416-150192417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180764736	chr7:150192421-150192422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539593954	chr7:150192438-150192439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556413996	chr7:150192471-150192472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184378526	chr7:150192483-150192484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576329274	chr7:150192497-150192498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538368386	chr7:150192506-150192507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554665524	chr7:150192509-150192510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574819650	chr7:150192540-150192541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540279756	chr7:150192543-150192544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543719191	chr7:150192547-150192548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560369598	chr7:150192570-150192571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373887768	chr7:150192580-150192581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545953527	chr7:150192609-150192610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562777326	chr7:150192610-150192611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531285030	chr7:150192615-150192616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541955619	chr7:150192640-150192641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565492437	chr7:150192654-150192655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370887327	chr7:150192676-150192677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552440402	chr7:150192693-150192694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547418708	chr7:150192699-150192700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527547877	chr7:150192706-150192707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570728927	chr7:150192712-150192713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533279040	chr7:150192736-150192737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116529357	chr7:150192737-150192738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188423187	chr7:150192755-150192756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537946539	chr7:150192767-150192768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571763544	chr7:150192853-150192854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146675246	chr7:150192890-150192891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77763751	chr7:150192950-150192951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553767382	chr7:150192979-150192980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73729151	chr7:150193051-150193052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13438625	chr7:150193057-150193058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556336374	chr7:150193076-150193077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576616962	chr7:150193078-150193079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72280706	chr7:150193101-150193102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538690088	chr7:150193128-150193129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542067175	chr7:150193136-150193137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs66517613	chr7:150193143-150193144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181251674	chr7:150193150-150193151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111914604	chr7:150193164-150193165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150180400-150199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:150185000-150193200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:150186200-150192800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150187400-150192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:150192200-150197200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:150192800-150193000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:150192800-150193600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:150193000-150199400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:150193200-150193600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr7:150193200-150193800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150193200-150194000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr7:150193400-150193800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:150193400-150193800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:150193400-150193800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:150193400-150193800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:150193400-150194000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:150193600-150193800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:150193600-150199400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:150193800-150199000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:150193800-150199400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:150194000-150199000	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links