Variant report

Variant	esv3513980
Chromosome Location	chr7:149968569-149970767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569776827	chr7:149968610-149968611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535573527	chr7:149968611-149968612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548917518	chr7:149968636-149968637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375292995	chr7:149968780-149968781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535060339	chr7:149968827-149968828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558167281	chr7:149968874-149968875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377479530	chr7:149968881-149968882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537627006	chr7:149968928-149968929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377376918	chr7:149968955-149968956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573752287	chr7:149968968-149968969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192730525	chr7:149968969-149968970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199674423	chr7:149968985-149968986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559438664	chr7:149968990-149968991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142198194	chr7:149968994-149968995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545016386	chr7:149969001-149969002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565017241	chr7:149969012-149969013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143229310	chr7:149969072-149969073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550331611	chr7:149969143-149969144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184405233	chr7:149969183-149969184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189160243	chr7:149969190-149969191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549202266	chr7:149969203-149969204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566215330	chr7:149969236-149969237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528457077	chr7:149969245-149969246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141088126	chr7:149969261-149969262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2530947	chr7:149969353-149969354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73728108	chr7:149969361-149969362	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557544279	chr7:149969386-149969387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386719348	chr7:149969391-149969392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575095525	chr7:149969396-149969397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2689559	chr7:149969406-149969407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138864495	chr7:149969411-149969412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552771921	chr7:149969432-149969433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4015662	chr7:149969462-149969463	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs397842607	chr7:149969542-149969543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397833285	chr7:149969547-149969548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181690167	chr7:149969548-149969549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184865294	chr7:149969573-149969574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4015660	chr7:149969578-149969579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190558354	chr7:149969609-149969610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370858733	chr7:149969648-149969649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371537664	chr7:149969649-149969650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544107622	chr7:149969658-149969659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2373766	chr7:149969680-149969681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2373765	chr7:149969739-149969740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200621993	chr7:149969760-149969761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377318178	chr7:149969778-149969779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201919346	chr7:149969780-149969781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2311358	chr7:149969784-149969785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397833284	chr7:149969788-149969789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2373762	chr7:149969826-149969827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
early-passage human iPS cells	21368824	CNVD
Congenital long qt syndrome	19214780	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149953600-149983600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:149959200-149980800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:149959200-149986200	Weak transcription	Lung	lung
4	chr7:149961600-149978200	Weak transcription	Pancreas	Pancrea
5	chr7:149962000-149983600	Weak transcription	Liver	Liver
6	chr7:149969200-149969800	Enhancers	Primary T cells from cord blood	blood
7	chr7:149969200-149970000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:149969200-149970000	Enhancers	Primary T helper cells PMA-I stimulated	--

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