Variant report

Variant	nsv1033988
Chromosome Location	chr7:78778675-78851897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:78776964..78780681-chr7:78782955..78785203,3	K562	blood:
2	chr7:78218746..78219372-chr7:78805948..78806448,2	MCF-7	breast:
3	chr7:78776964..78780681-chr7:78782955..78785203,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAT3-8	chr7:78802389-78804340	NONHSAT121698

Extended variants
information (count: 2164 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2164 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78511123	chr7:78778695-78778696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192845908	chr7:78778703-78778704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185341383	chr7:78778712-78778713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189162259	chr7:78778747-78778748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137889568	chr7:78778777-78778778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538837585	chr7:78778830-78778831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536984244	chr7:78778838-78778839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192495510	chr7:78778878-78778879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368506258	chr7:78778893-78778894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572268982	chr7:78778899-78778900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183603109	chr7:78778947-78778948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554298235	chr7:78778959-78778960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141067557	chr7:78778986-78778987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543155940	chr7:78779001-78779002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs983846	chr7:78779066-78779067	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113822389	chr7:78779071-78779072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546002415	chr7:78779076-78779077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559980035	chr7:78779077-78779078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113104646	chr7:78779086-78779087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528809058	chr7:78779092-78779093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114110414	chr7:78779153-78779154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561978879	chr7:78779162-78779163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554243150	chr7:78779206-78779207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530934188	chr7:78779222-78779223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374088458	chr7:78779272-78779273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551045820	chr7:78779311-78779312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188302544	chr7:78779341-78779342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10270594	chr7:78779388-78779389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572558286	chr7:78779409-78779410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367963778	chr7:78779411-78779412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552124019	chr7:78779456-78779457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565945146	chr7:78779494-78779495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572555770	chr7:78779506-78779507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534657859	chr7:78779514-78779515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368292593	chr7:78779574-78779575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386410540	chr7:78779575-78779576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386410541	chr7:78779579-78779580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386410542	chr7:78779584-78779585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59728410	chr7:78779585-78779586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541260116	chr7:78779607-78779608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199579474	chr7:78779634-78779635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554542085	chr7:78779724-78779725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150180104	chr7:78779725-78779726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118187929	chr7:78779737-78779738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539852205	chr7:78779748-78779749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564864553	chr7:78779831-78779832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181247496	chr7:78779838-78779839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576563458	chr7:78779847-78779848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546355022	chr7:78779877-78779878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77603632	chr7:78779895-78779896	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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78773000-78782000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:78775000-78781400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:78775400-78778800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:78778600-78779600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:78778800-78779600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:78778800-78779600	Enhancers	Placenta	Placenta
7	chr7:78778800-78780000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:78778800-78780400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:78779200-78779600	Enhancers	HMEC	breast
10	chr7:78779200-78780400	Enhancers	Osteobl	bone
11	chr7:78780000-78780800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:78781400-78781800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:78781800-78794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:78782000-78782200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:78782200-78782800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:78782600-78783200	Enhancers	Aorta	Aorta
17	chr7:78782800-78783000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:78786000-78794800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:78788400-78788800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:78789200-78789600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:78790600-78791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:78790600-78791000	Enhancers	Liver	Liver
23	chr7:78790600-78791800	Enhancers	Brain Substantia Nigra	brain
24	chr7:78791600-78791800	Enhancers	Ovary	ovary
25	chr7:78793000-78793600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:78793200-78793600	Enhancers	Adipose Nuclei	Adipose
27	chr7:78794400-78795400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:78798600-78804800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:78800000-78803200	Weak transcription	Aorta	Aorta
30	chr7:78801400-78801800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:78804200-78806200	Enhancers	Brain Angular Gyrus	brain
32	chr7:78804800-78805400	Enhancers	Brain Hippocampus Middle	brain
33	chr7:78804800-78805600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:78804800-78805800	Enhancers	Brain Substantia Nigra	brain
35	chr7:78804800-78806200	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:78805000-78806000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:78805400-78805600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:78805600-78806200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:78806000-78806200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:78806000-78806400	Active TSS	Osteobl	bone
42	chr7:78806200-78806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:78806200-78806400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:78806200-78806400	Enhancers	Fetal Lung	lung
45	chr7:78806200-78806600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:78806200-78807000	Enhancers	Liver	Liver
47	chr7:78806600-78806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:78806600-78807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:78806800-78807200	Enhancers	Fetal Heart	heart
50	chr7:78808800-78811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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