Variant report

Variant	nsv464599
Chromosome Location	chr7:78808378-78843289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 836 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7789660	chr7:78808378-78808379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7788638	chr7:78808429-78808430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535755204	chr7:78808441-78808442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555363586	chr7:78808449-78808450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567548252	chr7:78808459-78808460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373113126	chr7:78808509-78808510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76403905	chr7:78808549-78808550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75910444	chr7:78808587-78808588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538264465	chr7:78808654-78808655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149276243	chr7:78808677-78808678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143422720	chr7:78808684-78808685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35600384	chr7:78808725-78808726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540861778	chr7:78808732-78808733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147981595	chr7:78808740-78808741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141784292	chr7:78808757-78808758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201937750	chr7:78808786-78808787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114215374	chr7:78808815-78808816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370467520	chr7:78808839-78808840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13222070	chr7:78808853-78808854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376084571	chr7:78808888-78808889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77749470	chr7:78808938-78808939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13222189	chr7:78808948-78808949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs146041753	chr7:78808955-78808956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566684655	chr7:78808970-78808971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187525895	chr7:78808998-78808999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549319896	chr7:78809039-78809040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13222396	chr7:78809096-78809097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139909768	chr7:78809103-78809104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192251070	chr7:78809107-78809108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35989559	chr7:78809135-78809136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557557653	chr7:78809162-78809163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13239380	chr7:78809168-78809169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570310135	chr7:78809208-78809209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141775537	chr7:78809209-78809210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184037492	chr7:78809238-78809239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117348284	chr7:78809256-78809257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542882715	chr7:78809271-78809272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146249535	chr7:78809304-78809305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187770805	chr7:78809376-78809377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545433306	chr7:78809425-78809426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565139620	chr7:78809445-78809446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527748367	chr7:78809451-78809452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541185123	chr7:78809452-78809453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374231145	chr7:78809461-78809462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560361982	chr7:78809496-78809497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546327795	chr7:78809499-78809500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566566408	chr7:78809579-78809580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549285029	chr7:78809582-78809583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569216481	chr7:78809599-78809600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149799347	chr7:78809621-78809622	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:78808800-78811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:78811200-78812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:78811200-78812400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:78811400-78812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:78811400-78812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:78811400-78812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:78811400-78812400	Enhancers	NH-A	brain
9	chr7:78811600-78812000	Enhancers	NHEK	skin
10	chr7:78811600-78812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:78811600-78812200	Enhancers	HMEC	breast
12	chr7:78811600-78812400	Enhancers	Osteobl	bone
13	chr7:78811800-78812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:78812000-78812400	Enhancers	NHLF	lung
15	chr7:78812000-78814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:78812000-78814200	Weak transcription	NHEK	skin
17	chr7:78812200-78814200	Weak transcription	HMEC	breast
18	chr7:78812400-78814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:78814200-78814800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:78814200-78815400	Enhancers	HMEC	breast
21	chr7:78814200-78816000	Enhancers	NHEK	skin
22	chr7:78814400-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:78814800-78815000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:78814800-78815600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:78815600-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:78822200-78822800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:78822800-78823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:78823200-78823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:78823400-78823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:78823400-78829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:78823800-78824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:78824200-78824800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:78829000-78829400	Enhancers	Osteobl	bone
34	chr7:78829000-78829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:78829000-78829600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:78829000-78829800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:78829000-78831000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:78829000-78831000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:78829200-78829600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:78829200-78829800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:78829200-78829800	Enhancers	NHDF-Ad	bronchial
42	chr7:78830200-78830600	Enhancers	Brain Angular Gyrus	brain
43	chr7:78831000-78833400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:78833400-78833800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:78833400-78833800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:78833400-78833800	ZNF genes & repeats	Aorta	Aorta
47	chr7:78840800-78841400	Enhancers	Liver	Liver
48	chr7:78841000-78842400	Enhancers	HepG2	liver
49	chr7:78841400-78841600	Flanking Active TSS	Liver	Liver
50	chr7:78841600-78842200	Enhancers	Liver	Liver

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