Variant report

Variant	esv3391281
Chromosome Location	chr7:40238104-40238466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148613483	chr7:40238211-40238212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180836475	chr7:40238225-40238226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142034735	chr7:40238226-40238227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574664083	chr7:40238235-40238236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184291073	chr7:40238245-40238246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60751177	chr7:40238258-40238259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202147545	chr7:40238270-40238271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532166303	chr7:40238275-40238276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189245819	chr7:40238280-40238281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7779560	chr7:40238304-40238305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs112576568	chr7:40238310-40238311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147006505	chr7:40238319-40238320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375942307	chr7:40238322-40238323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548193151	chr7:40238325-40238326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181837361	chr7:40238331-40238332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186530126	chr7:40238370-40238371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546933172	chr7:40238417-40238418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567165888	chr7:40238424-40238425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538816131	chr7:40238437-40238438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40221600-40259800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:40222600-40256800	Weak transcription	Fetal Intestine Large	intestine
3	chr7:40224200-40256200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:40225400-40239600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:40226200-40245400	Weak transcription	Left Ventricle	heart
6	chr7:40228400-40247800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:40229000-40238800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:40230800-40257000	Weak transcription	Liver	Liver
9	chr7:40232600-40240000	Weak transcription	Aorta	Aorta
10	chr7:40233800-40241400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:40234200-40242400	Weak transcription	Ovary	ovary
12	chr7:40234600-40238400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:40234600-40238800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:40234600-40239600	Weak transcription	HMEC	breast
15	chr7:40234800-40238800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:40234800-40240000	Weak transcription	NHDF-Ad	bronchial
17	chr7:40235200-40238400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:40235800-40239800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:40236400-40238600	Weak transcription	HSMMtube	muscle
20	chr7:40236400-40240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:40236600-40264400	Weak transcription	Pancreas	Pancrea
22	chr7:40237400-40238600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:40237400-40239600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:40237400-40240000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:40237400-40256800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:40237800-40241200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:40238000-40238800	Weak transcription	HSMM	muscle
28	chr7:40238400-40239000	Enhancers	Adipose Nuclei	Adipose
29	chr7:40238400-40241200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:40238400-40241400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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