Variant report

Variant	esv3406238
Chromosome Location	chr7:110541366-110544064
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	chr7:110543756..110546433-chr7:110564740..110566931,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567619814	chr7:110542808-110542809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558959738	chr7:110542825-110542826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569229004	chr7:110542925-110542926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535039635	chr7:110542975-110542976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538270677	chr7:110542983-110542984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199770814	chr7:110543009-110543010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370674957	chr7:110543042-110543043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557832077	chr7:110543082-110543083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578015210	chr7:110543168-110543169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546632346	chr7:110543180-110543181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540486661	chr7:110543193-110543194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144951794	chr7:110543204-110543205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs258989	chr7:110543241-110543242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs542456042	chr7:110543251-110543252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188020821	chr7:110543259-110543260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531293291	chr7:110543262-110543263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545007860	chr7:110543275-110543276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538748950	chr7:110543288-110543289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564514789	chr7:110543300-110543301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538593420	chr7:110543447-110543448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533451500	chr7:110543448-110543449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546927368	chr7:110543558-110543559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566819362	chr7:110543572-110543573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115226708	chr7:110543582-110543583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549294315	chr7:110543594-110543595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556815062	chr7:110543616-110543617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569348870	chr7:110543670-110543671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367785164	chr7:110543689-110543690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181235113	chr7:110543745-110543746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571628985	chr7:110543755-110543756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534176273	chr7:110543780-110543781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554156589	chr7:110543800-110543801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185288816	chr7:110543815-110543816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146789810	chr7:110543823-110543824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77687863	chr7:110543844-110543845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536483368	chr7:110543888-110543889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190098965	chr7:110543896-110543897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576112866	chr7:110543941-110543942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544237411	chr7:110543975-110543976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201051465	chr7:110543980-110543981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544735436	chr7:110543991-110543992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs258990	chr7:110543994-110543995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs58062442	chr7:110544039-110544040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110541000-110541400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:110542800-110545600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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