Variant report

Variant	esv3411047
Chromosome Location	chr7:41278282-41278812
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	chr7:41200450..41202683-chr7:41278426..41280923,2	MCF-7	breast:
2	chr7:41277967..41280193-chr7:41283626..41286439,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529246683	chr7:41278282-41278283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376308896	chr7:41278296-41278297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs985821	chr7:41278299-41278300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs183794477	chr7:41278327-41278328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539901961	chr7:41278333-41278334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28534868	chr7:41278337-41278338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537184098	chr7:41278352-41278353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78100013	chr7:41278360-41278361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12701873	chr7:41278362-41278363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs574389045	chr7:41278383-41278384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372109154	chr7:41278423-41278424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535137659	chr7:41278441-41278442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144908616	chr7:41278459-41278460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575290138	chr7:41278468-41278469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545871717	chr7:41278476-41278477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564280421	chr7:41278541-41278542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374731682	chr7:41278554-41278555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573025112	chr7:41278576-41278577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199655215	chr7:41278595-41278596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77958788	chr7:41278608-41278609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76771276	chr7:41278610-41278611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147941505	chr7:41278623-41278624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554011720	chr7:41278724-41278725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572130780	chr7:41278777-41278778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12701874	chr7:41278784-41278785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs529173922	chr7:41278809-41278810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Autism	22495311	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
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
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41259400-41278400	Weak transcription	HSMM	muscle
2	chr7:41265000-41296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:41275800-41278600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:41277200-41279200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:41277200-41279200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:41277200-41279200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:41277200-41279400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:41277200-41279400	Enhancers	Hela-S3	cervix
9	chr7:41277200-41279400	Enhancers	NHDF-Ad	bronchial
10	chr7:41277400-41279200	Enhancers	NHEK	skin
11	chr7:41277400-41279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:41277400-41279600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:41277400-41279600	Enhancers	HMEC	breast
14	chr7:41277400-41279600	Enhancers	Osteobl	bone
15	chr7:41277600-41279200	Enhancers	NHLF	lung
16	chr7:41277600-41279400	Enhancers	HUVEC	blood vessel
17	chr7:41277800-41278600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:41278000-41278400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:41278000-41279200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:41278000-41279200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:41278200-41278600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:41278400-41279600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:41278400-41279600	Enhancers	HSMM	muscle
24	chr7:41278600-41279400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:41278600-41280200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:41278600-41283800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:41278800-41279000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:41278800-41279200	Enhancers	Fetal Kidney	kidney

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