Variant report

Variant	esv3475982
Chromosome Location	chr7:39387133-39387989
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	chr7:39385462..39387138-chr7:39393032..39395151,2	K562	blood:
2	chr20:49416978..49419812-chr7:39387654..39389957,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1558159	chr7:39387141-39387142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531714302	chr7:39387162-39387163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548351157	chr7:39387220-39387221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5883686	chr7:39387228-39387229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199897043	chr7:39387230-39387231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140211827	chr7:39387236-39387237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3072138	chr7:39387245-39387246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576412999	chr7:39387247-39387248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181282671	chr7:39387316-39387317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142670924	chr7:39387360-39387361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533793205	chr7:39387375-39387376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373160136	chr7:39387387-39387388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532160991	chr7:39387444-39387445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570791935	chr7:39387450-39387451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186066157	chr7:39387451-39387452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553606698	chr7:39387453-39387454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551882887	chr7:39387527-39387528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571297879	chr7:39387558-39387559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375605997	chr7:39387559-39387560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117446815	chr7:39387602-39387603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576070896	chr7:39387669-39387670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540339529	chr7:39387675-39387676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555125214	chr7:39387704-39387705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147358033	chr7:39387714-39387715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138068329	chr7:39387720-39387721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572010220	chr7:39387848-39387849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189872311	chr7:39387866-39387867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560720977	chr7:39387880-39387881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532695900	chr7:39387950-39387951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542819399	chr7:39387958-39387959	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
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39383400-39391800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:39383600-39391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:39386600-39388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links