Variant report

Variant	esv3404498
Chromosome Location	chr7:38446327-38447475
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	chr7:38446918..38449390-chr7:38451052..38452577,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62446764	chr7:38446328-38446329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201123825	chr7:38446330-38446331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75875821	chr7:38446331-38446332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111357303	chr7:38446337-38446338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56738810	chr7:38446375-38446376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs70975097	chr7:38446376-38446377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79913976	chr7:38446377-38446378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73348851	chr7:38446413-38446414	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530433563	chr7:38446426-38446427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs11763753	chr7:38446453-38446454	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79029226	chr7:38446459-38446460	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560179562	chr7:38446479-38446480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548551140	chr7:38446552-38446553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527619992	chr7:38446572-38446573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs71558121	chr7:38446621-38446622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370612609	chr7:38446649-38446650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71535802	chr7:38446650-38446651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188560398	chr7:38446651-38446652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77928895	chr7:38446652-38446653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372289143	chr7:38446654-38446655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377302505	chr7:38446656-38446657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112044882	chr7:38446658-38446659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376185442	chr7:38446671-38446672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13247911	chr7:38446676-38446677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372133909	chr7:38446677-38446678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60236968	chr7:38446680-38446681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200329265	chr7:38446690-38446691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs70975098	chr7:38446708-38446709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370121925	chr7:38446782-38446783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181387698	chr7:38446797-38446798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537857846	chr7:38446852-38446853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140959750	chr7:38446862-38446863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77658093	chr7:38446866-38446867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568295589	chr7:38446870-38446871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112934317	chr7:38446889-38446890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7801706	chr7:38446894-38446895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190994593	chr7:38446896-38446897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370294042	chr7:38446897-38446898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373353246	chr7:38446900-38446901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376361213	chr7:38446908-38446909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557660833	chr7:38446916-38446917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138663407	chr7:38446935-38446936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs70975099	chr7:38446952-38446953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13238316	chr7:38446953-38446954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574415961	chr7:38446980-38446981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542837041	chr7:38446982-38446983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181068359	chr7:38447023-38447024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553572415	chr7:38447070-38447071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537351180	chr7:38447127-38447128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186182477	chr7:38447129-38447130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38431600-38489000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:38439000-38483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:38444000-38468600	Weak transcription	Fetal Stomach	stomach
4	chr7:38444800-38467600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:38446200-38446600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:38446400-38446600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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