Variant report

Variant	esv3475989
Chromosome Location	chr7:39591941-39592465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2329450	chr7:39591941-39591942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568852304	chr7:39592034-39592035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536788610	chr7:39592063-39592064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192254505	chr7:39592100-39592101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111750156	chr7:39592106-39592107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376847101	chr7:39592120-39592121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572716524	chr7:39592125-39592126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113888953	chr7:39592140-39592141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61005854	chr7:39592221-39592222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553590029	chr7:39592248-39592249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111888270	chr7:39592275-39592276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111287878	chr7:39592313-39592314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538904903	chr7:39592350-39592351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180826070	chr7:39592351-39592352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555071854	chr7:39592355-39592356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147521099	chr7:39592362-39592363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184669810	chr7:39592363-39592364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544945782	chr7:39592379-39592380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190297377	chr7:39592399-39592400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374404373	chr7:39592406-39592407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35764248	chr7:39592457-39592458	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
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
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
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39589400-39596200	Enhancers	Fetal Brain Male	brain
2	chr7:39590600-39594600	Weak transcription	Fetal Brain Female	brain
3	chr7:39591400-39592000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:39591400-39592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:39591400-39592000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:39591600-39592000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:39591600-39592000	Enhancers	Osteobl	bone
8	chr7:39591800-39592000	Enhancers	NHDF-Ad	bronchial
9	chr7:39592000-39593000	Weak transcription	NHDF-Ad	bronchial
10	chr7:39592000-39593200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links