Variant report

Variant	nsv538989
Chromosome Location	chr7:78807175-78858690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1455 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1455 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571205901	chr7:78807195-78807196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182342887	chr7:78807210-78807211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546632289	chr7:78807236-78807237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560521470	chr7:78807292-78807293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117863480	chr7:78807315-78807316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186057666	chr7:78807334-78807335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34707261	chr7:78807354-78807355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190918636	chr7:78807379-78807380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79876421	chr7:78807462-78807463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556827606	chr7:78807465-78807466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115259511	chr7:78807470-78807471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181114338	chr7:78807474-78807475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552651444	chr7:78807475-78807476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572810439	chr7:78807504-78807505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541917295	chr7:78807605-78807606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561802991	chr7:78807620-78807621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185360364	chr7:78807629-78807630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144280711	chr7:78807647-78807648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564708596	chr7:78807677-78807678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13309906	chr7:78807684-78807685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547288031	chr7:78807699-78807700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370385303	chr7:78807707-78807708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79351981	chr7:78807728-78807729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146587336	chr7:78807802-78807803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112151410	chr7:78807826-78807827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545504394	chr7:78807828-78807829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190169439	chr7:78807856-78807857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536843950	chr7:78807857-78807858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142257623	chr7:78807910-78807911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570632585	chr7:78807919-78807920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374356774	chr7:78807934-78807935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151252174	chr7:78807960-78807961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140578973	chr7:78807976-78807977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182719807	chr7:78807977-78807978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541889042	chr7:78807984-78807985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367892913	chr7:78808012-78808013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535229496	chr7:78808020-78808021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555502248	chr7:78808029-78808030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150495700	chr7:78808071-78808072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115139927	chr7:78808079-78808080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544815734	chr7:78808091-78808092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147717286	chr7:78808114-78808115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142575148	chr7:78808127-78808128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376289366	chr7:78808129-78808130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117999714	chr7:78808131-78808132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145849972	chr7:78808135-78808136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529239880	chr7:78808142-78808143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549011951	chr7:78808171-78808172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373282973	chr7:78808196-78808197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531650567	chr7:78808199-78808200	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:78806600-78807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:78806800-78807200	Enhancers	Fetal Heart	heart
4	chr7:78808800-78811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:78811200-78812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:78811200-78812400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:78811400-78812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:78811400-78812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:78811400-78812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:78811400-78812400	Enhancers	NH-A	brain
11	chr7:78811600-78812000	Enhancers	NHEK	skin
12	chr7:78811600-78812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:78811600-78812200	Enhancers	HMEC	breast
14	chr7:78811600-78812400	Enhancers	Osteobl	bone
15	chr7:78811800-78812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:78812000-78812400	Enhancers	NHLF	lung
17	chr7:78812000-78814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:78812000-78814200	Weak transcription	NHEK	skin
19	chr7:78812200-78814200	Weak transcription	HMEC	breast
20	chr7:78812400-78814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:78814200-78814800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:78814200-78815400	Enhancers	HMEC	breast
23	chr7:78814200-78816000	Enhancers	NHEK	skin
24	chr7:78814400-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:78814800-78815000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:78814800-78815600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:78815600-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:78822200-78822800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:78822800-78823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:78823200-78823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:78823400-78823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:78823400-78829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:78823800-78824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:78824200-78824800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:78829000-78829400	Enhancers	Osteobl	bone
36	chr7:78829000-78829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:78829000-78829600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:78829000-78829800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:78829000-78831000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:78829000-78831000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr7:78829200-78829600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:78829200-78829800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:78829200-78829800	Enhancers	NHDF-Ad	bronchial
44	chr7:78830200-78830600	Enhancers	Brain Angular Gyrus	brain
45	chr7:78831000-78833400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:78833400-78833800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:78833400-78833800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:78833400-78833800	ZNF genes & repeats	Aorta	Aorta
49	chr7:78840800-78841400	Enhancers	Liver	Liver
50	chr7:78841000-78842400	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links