Variant report

Variant	nsv608966
Chromosome Location	chr7:147574479-147588768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 610 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574492080	chr7:147575018-147575019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs759178	chr7:147575112-147575113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs10248203	chr7:147575125-147575126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113946135	chr7:147575133-147575134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183187393	chr7:147575134-147575135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375739783	chr7:147575158-147575159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562503181	chr7:147575168-147575169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368442019	chr7:147575190-147575191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576095570	chr7:147575216-147575217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548332588	chr7:147575220-147575221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554825285	chr7:147575221-147575222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs759177	chr7:147575230-147575231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs199694453	chr7:147575241-147575242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77170709	chr7:147575242-147575243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76085804	chr7:147575243-147575244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559231132	chr7:147575261-147575262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187716000	chr7:147575268-147575269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566684843	chr7:147575289-147575290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143413094	chr7:147575304-147575305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558891915	chr7:147575339-147575340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10628344	chr7:147575359-147575360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553665702	chr7:147575360-147575361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568353547	chr7:147575373-147575374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375537482	chr7:147575376-147575377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537839960	chr7:147575420-147575421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1035083	chr7:147575478-147575479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368875391	chr7:147575497-147575498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553707087	chr7:147575535-147575536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5888292	chr7:147575536-147575537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397824081	chr7:147575544-147575545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575037364	chr7:147575551-147575552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574454552	chr7:147575560-147575561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539975853	chr7:147575566-147575567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371747256	chr7:147575598-147575599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560279352	chr7:147575628-147575629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577034006	chr7:147575675-147575676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546043070	chr7:147575702-147575703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562831395	chr7:147575718-147575719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531945484	chr7:147575735-147575736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2708238	chr7:147575818-147575819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563699704	chr7:147575828-147575829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561957588	chr7:147575857-147575858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369129009	chr7:147575877-147575878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192690648	chr7:147575908-147575909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117085534	chr7:147575935-147575936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2708239	chr7:147575961-147575962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532346800	chr7:147576009-147576010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552443940	chr7:147576025-147576026	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148380798	chr7:147576056-147576057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572523683	chr7:147576064-147576065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147575000-147575200	Enhancers	Brain Angular Gyrus	brain
2	chr7:147575000-147576400	Enhancers	Brain Substantia Nigra	brain
3	chr7:147575400-147576600	Weak transcription	Brain Angular Gyrus	brain
4	chr7:147575600-147577200	Enhancers	Adipose Nuclei	Adipose
5	chr7:147575800-147576600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:147575800-147577000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:147575800-147577200	Enhancers	Fetal Lung	lung
8	chr7:147576000-147576400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr7:147576000-147576800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:147576000-147576800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:147576000-147577000	Enhancers	Fetal Intestine Large	intestine
12	chr7:147576000-147577000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:147576000-147577200	Enhancers	Brain Germinal Matrix	brain
14	chr7:147576000-147577400	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:147576200-147576400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr7:147576200-147576600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:147576200-147576800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:147576200-147576800	Enhancers	Fetal Brain Male	brain
19	chr7:147576200-147576800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:147576200-147576800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr7:147576400-147576800	Active TSS	Brain Hippocampus Middle	brain
22	chr7:147576400-147576800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr7:147576600-147578000	Enhancers	Brain Angular Gyrus	brain
24	chr7:147576600-147578200	Enhancers	Brain Anterior Caudate	brain
25	chr7:147576800-147577600	Enhancers	Brain Hippocampus Middle	brain
26	chr7:147576800-147577600	Enhancers	Brain Substantia Nigra	brain
27	chr7:147576800-147578400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:147576800-147582000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:147576800-147582200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:147577600-147581400	Weak transcription	Brain Substantia Nigra	brain
31	chr7:147581400-147582000	Enhancers	Brain Substantia Nigra	brain
32	chr7:147582000-147584000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:147582000-147589400	Weak transcription	Brain Substantia Nigra	brain
34	chr7:147582200-147583200	Enhancers	Monocytes-CD14+_RO01746	blood

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