Variant report

Variant	esv5876
Chromosome Location	chr7:83844205-83844927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530601352	chr7:83844209-83844210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150217278	chr7:83844227-83844228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141351120	chr7:83844252-83844253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190537573	chr7:83844259-83844260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552188720	chr7:83844260-83844261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569023771	chr7:83844261-83844262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552739138	chr7:83844262-83844263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372881265	chr7:83844265-83844266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566112283	chr7:83844332-83844333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538793298	chr7:83844335-83844336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7787024	chr7:83844338-83844339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569463613	chr7:83844355-83844356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181839411	chr7:83844372-83844373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10233861	chr7:83844401-83844402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573537953	chr7:83844424-83844425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550399208	chr7:83844477-83844478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553052890	chr7:83844487-83844488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201565967	chr7:83844491-83844492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375574118	chr7:83844492-83844493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577705260	chr7:83844535-83844536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369587454	chr7:83844552-83844553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567404467	chr7:83844612-83844613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373351587	chr7:83844660-83844661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545125323	chr7:83844663-83844664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563213880	chr7:83844668-83844669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530193269	chr7:83844748-83844749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530752763	chr7:83844753-83844754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542421245	chr7:83844754-83844755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570316812	chr7:83844788-83844789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561245560	chr7:83844832-83844833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184426993	chr7:83844838-83844839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546486216	chr7:83844851-83844852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7791466	chr7:83844853-83844854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537089341	chr7:83844861-83844862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532351651	chr7:83844867-83844868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7808861	chr7:83844884-83844885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7808880	chr7:83844922-83844923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83838200-83846400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:83840000-83846200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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