Variant report

Variant	esv3360192
Chromosome Location	chr7:110041066-110043864
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	chr7:110033400..110035534-chr7:110043486..110046161,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565521706	chr7:110041082-110041083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146534166	chr7:110041091-110041092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9649333	chr7:110041110-110041111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577235963	chr7:110041202-110041203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79692400	chr7:110041207-110041208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6466332	chr7:110041236-110041237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141310649	chr7:110041244-110041245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73198781	chr7:110041276-110041277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184362072	chr7:110041293-110041294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531003452	chr7:110041314-110041315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551115601	chr7:110041339-110041340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138053925	chr7:110041349-110041350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542841212	chr7:110041350-110041351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546823950	chr7:110041367-110041368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375439669	chr7:110041484-110041485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189685507	chr7:110041485-110041486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535779479	chr7:110041487-110041488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548888007	chr7:110041518-110041519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111276226	chr7:110041536-110041537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543912969	chr7:110041595-110041596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181324584	chr7:110041618-110041619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557443157	chr7:110041747-110041748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577173575	chr7:110041787-110041788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563908663	chr7:110041857-110041858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533551231	chr7:110041934-110041935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553771974	chr7:110041944-110041945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111219794	chr7:110041962-110041963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573443257	chr7:110041966-110041967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542539379	chr7:110041997-110041998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111219841	chr7:110042009-110042010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371688759	chr7:110042063-110042064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186014794	chr7:110042106-110042107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575924648	chr7:110042129-110042130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544675612	chr7:110042164-110042165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369489658	chr7:110042194-110042195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374530072	chr7:110042198-110042199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111219866	chr7:110042222-110042223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564574295	chr7:110042231-110042232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189209907	chr7:110042250-110042251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372732328	chr7:110042274-110042275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373664157	chr7:110042277-110042278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377715024	chr7:110042287-110042288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370396904	chr7:110042294-110042295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372607068	chr7:110042296-110042297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181900939	chr7:110042300-110042301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540253383	chr7:110042349-110042350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187666058	chr7:110042358-110042359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111219812	chr7:110042413-110042414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577480817	chr7:110042418-110042419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191984744	chr7:110042440-110042441	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110028600-110055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:110031200-110050600	Weak transcription	Dnd41	blood
3	chr7:110041400-110041600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:110041600-110043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:110043000-110043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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