Variant report

Variant	nsv971530
Chromosome Location	chr7:78909395-78914563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 89 )

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	rs543088723	chr7:78909430-78909431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191348120	chr7:78909434-78909435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562947116	chr7:78909443-78909444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546408173	chr7:78909462-78909463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181865356	chr7:78909496-78909497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116227776	chr7:78909498-78909499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564151012	chr7:78909550-78909551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111976680	chr7:78909567-78909568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540169210	chr7:78909610-78909611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149636172	chr7:78909624-78909625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80070597	chr7:78909625-78909626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549027643	chr7:78909627-78909628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185973702	chr7:78909648-78909649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12706097	chr7:78909696-78909697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570961552	chr7:78909697-78909698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551427942	chr7:78909719-78909720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571750489	chr7:78909725-78909726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144405461	chr7:78909728-78909729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59941794	chr7:78909735-78909736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547573727	chr7:78909744-78909745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117611379	chr7:78909746-78909747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112294705	chr7:78909782-78909783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556170772	chr7:78909800-78909801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148382778	chr7:78909817-78909818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141503825	chr7:78909835-78909836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558970780	chr7:78909873-78909874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190827605	chr7:78909890-78909891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183112745	chr7:78909928-78909929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12539155	chr7:78909937-78909938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370575833	chr7:78909956-78909957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56046038	chr7:78909965-78909966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28694694	chr7:78909978-78909979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560898366	chr7:78909993-78909994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574018571	chr7:78910013-78910014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529621380	chr7:78910014-78910015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187836721	chr7:78910028-78910029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542908708	chr7:78910033-78910034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562489759	chr7:78910045-78910046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146367390	chr7:78910055-78910056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551196228	chr7:78910057-78910058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57411223	chr7:78910073-78910074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190842602	chr7:78910108-78910109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10953823	chr7:78910111-78910112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111732291	chr7:78910112-78910113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538378144	chr7:78910117-78910118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569745657	chr7:78910196-78910197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10953824	chr7:78910201-78910202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12706098	chr7:78910238-78910239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12706099	chr7:78910240-78910241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200581654	chr7:78910243-78910244	Weak transcription Enhancers	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78896800-78911600	Weak transcription	Aorta	Aorta
2	chr7:78899400-78909600	Weak transcription	NHLF	lung
3	chr7:78902400-78910200	Weak transcription	Osteobl	bone
4	chr7:78902600-78911600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:78907600-78910800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:78907800-78911600	Weak transcription	Psoas Muscle	Psoas
7	chr7:78908000-78910400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:78908000-78911600	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:78908200-78910400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:78908600-78911600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:78908600-78911600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:78908800-78909800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:78908800-78910000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:78909600-78911600	Enhancers	NHLF	lung
15	chr7:78909800-78910800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:78909800-78911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:78909800-78911600	Enhancers	NHDF-Ad	bronchial
18	chr7:78910000-78910800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:78910000-78911000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:78910200-78912400	Enhancers	Osteobl	bone
21	chr7:78910400-78910600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:78910400-78910600	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:78910400-78911200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:78910400-78911600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:78910400-78913800	Enhancers	HSMM	muscle
26	chr7:78910600-78910800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:78910600-78910800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:78910600-78911400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:78910600-78911600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:78910600-78911600	Enhancers	Brain Angular Gyrus	brain
31	chr7:78910600-78911800	Enhancers	Colon Smooth Muscle	Colon
32	chr7:78910600-78915800	Enhancers	NHEK	skin
33	chr7:78910800-78911000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:78910800-78911400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:78910800-78911600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:78910800-78911600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:78910800-78911600	Enhancers	A549	lung
38	chr7:78910800-78912800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:78910800-78913400	Enhancers	HUVEC	blood vessel
40	chr7:78910800-78914200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:78911000-78911400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:78911000-78911800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:78911000-78912600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:78911200-78911600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:78911400-78911800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:78911400-78912000	Enhancers	Brain Cingulate Gyrus	brain
47	chr7:78911400-78912000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:78911400-78912400	Enhancers	NH-A	brain
49	chr7:78911400-78913600	Enhancers	HSMMtube	muscle
50	chr7:78911400-78913800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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