Variant report

Variant	esv3356792
Chromosome Location	chr7:78842541-78845389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567765710	chr7:78842542-78842543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28653478	chr7:78842554-78842555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs199693833	chr7:78842560-78842561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371020473	chr7:78842565-78842566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374580046	chr7:78842572-78842573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368739017	chr7:78842574-78842575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569107243	chr7:78842586-78842587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200811954	chr7:78842591-78842592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74616859	chr7:78842592-78842593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373967676	chr7:78842596-78842597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557723752	chr7:78842612-78842613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577264205	chr7:78842632-78842633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185092084	chr7:78842639-78842640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553409139	chr7:78842640-78842641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146529788	chr7:78842641-78842642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112874915	chr7:78842642-78842643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201843129	chr7:78842662-78842663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547993005	chr7:78842666-78842667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376161634	chr7:78842703-78842704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74697482	chr7:78842718-78842719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs118175709	chr7:78842732-78842733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151039612	chr7:78842747-78842748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532015719	chr7:78842754-78842755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551743076	chr7:78842766-78842767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565277023	chr7:78842857-78842858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541723400	chr7:78842956-78842957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76162689	chr7:78842981-78842982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562432462	chr7:78842982-78842983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527638811	chr7:78842983-78842984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547824175	chr7:78843027-78843028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78710231	chr7:78843028-78843029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530160334	chr7:78843069-78843070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549141590	chr7:78843104-78843105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77320787	chr7:78843134-78843135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188545467	chr7:78843168-78843169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116818475	chr7:78843177-78843178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564362483	chr7:78843198-78843199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571214869	chr7:78843254-78843255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533510510	chr7:78843255-78843256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12706063	chr7:78843289-78843290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs546898512	chr7:78843356-78843357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542390873	chr7:78843357-78843358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556709337	chr7:78843376-78843377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576607467	chr7:78843406-78843407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545587392	chr7:78843418-78843419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565538062	chr7:78843427-78843428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528009550	chr7:78843441-78843442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111823552	chr7:78843468-78843469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76714716	chr7:78843470-78843471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372208804	chr7:78843634-78843635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	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
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78842200-78847000	Weak transcription	Liver	Liver
2	chr7:78842400-78845400	Weak transcription	HepG2	liver
3	chr7:78844600-78845000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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