Variant report

Variant	esv1793308
Chromosome Location	chr7:78789702-78796945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6948496	chr7:78789702-78789703	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557855016	chr7:78789743-78789744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386714988	chr7:78789774-78789775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112497860	chr7:78789812-78789813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374927654	chr7:78789817-78789818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530020369	chr7:78789820-78789821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6953779	chr7:78789843-78789844	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572998749	chr7:78789920-78789921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73145370	chr7:78789940-78789941	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552650446	chr7:78789954-78789955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147175366	chr7:78789997-78789998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57773214	chr7:78789999-78790000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367845135	chr7:78790027-78790028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73145372	chr7:78790056-78790057	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534001147	chr7:78790075-78790076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200801856	chr7:78790099-78790100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554076715	chr7:78790117-78790118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187548055	chr7:78790145-78790146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536240564	chr7:78790174-78790175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191314814	chr7:78790278-78790279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145291584	chr7:78790310-78790311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34717480	chr7:78790323-78790324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544731452	chr7:78790352-78790353	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558641384	chr7:78790408-78790409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147650386	chr7:78790443-78790444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531461210	chr7:78790496-78790497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541261225	chr7:78790528-78790529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561225630	chr7:78790566-78790567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114418550	chr7:78790623-78790624	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575259947	chr7:78790669-78790670	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543790873	chr7:78790683-78790684	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563495360	chr7:78790698-78790699	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532544111	chr7:78790700-78790701	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540184954	chr7:78790721-78790722	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566195614	chr7:78790722-78790723	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527469046	chr7:78790729-78790730	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544268403	chr7:78790762-78790763	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183853646	chr7:78790791-78790792	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187007488	chr7:78790797-78790798	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536112763	chr7:78790801-78790802	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556423333	chr7:78790802-78790803	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535220579	chr7:78790844-78790845	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558243437	chr7:78790853-78790854	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112226620	chr7:78790857-78790858	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569521719	chr7:78790868-78790869	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538643588	chr7:78790952-78790953	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368171350	chr7:78790972-78790973	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571835463	chr7:78791013-78791014	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541223664	chr7:78791043-78791044	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554784858	chr7:78791112-78791113	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Glioma	20126413	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78781800-78794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78786000-78794800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:78790600-78791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:78790600-78791000	Enhancers	Liver	Liver
5	chr7:78790600-78791800	Enhancers	Brain Substantia Nigra	brain
6	chr7:78791600-78791800	Enhancers	Ovary	ovary
7	chr7:78793000-78793600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:78793200-78793600	Enhancers	Adipose Nuclei	Adipose
9	chr7:78794400-78795400	Enhancers	Pancreatic Islets	Pancreatic Islet

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