Variant report

Variant	nsv517892
Chromosome Location	chr7:147096186-147097358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:146963308..146964971-chr7:147095158..147097762,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386719063	chr7:147096186-147096187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201636869	chr7:147096187-147096188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147377805	chr7:147096192-147096193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561304325	chr7:147096214-147096215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530062024	chr7:147096241-147096242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12155219	chr7:147096254-147096255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6967848	chr7:147096271-147096272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375836438	chr7:147096310-147096311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182898883	chr7:147096322-147096323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550568620	chr7:147096352-147096353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552380369	chr7:147096370-147096371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76004459	chr7:147096377-147096378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187258970	chr7:147096381-147096382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556798397	chr7:147096400-147096401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567204609	chr7:147096427-147096428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535878113	chr7:147096472-147096473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139458280	chr7:147096473-147096474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191633740	chr7:147096526-147096527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545202428	chr7:147096534-147096535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375500133	chr7:147096575-147096576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369824521	chr7:147096620-147096621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558822432	chr7:147096638-147096639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35985250	chr7:147096639-147096640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575526321	chr7:147096663-147096664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144988629	chr7:147096673-147096674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561230950	chr7:147096759-147096760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113685719	chr7:147096765-147096766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530065061	chr7:147096785-147096786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539416191	chr7:147096797-147096798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560816091	chr7:147096799-147096800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532699868	chr7:147096843-147096844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs700311	chr7:147096885-147096886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150593853	chr7:147096987-147096988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182619028	chr7:147097008-147097009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188032395	chr7:147097019-147097020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567289138	chr7:147097080-147097081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536240572	chr7:147097097-147097098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546307697	chr7:147097127-147097128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539396096	chr7:147097145-147097146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566758608	chr7:147097167-147097168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538901611	chr7:147097219-147097220	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558914128	chr7:147097241-147097242	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs11771144	chr7:147097251-147097252	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538049481	chr7:147097261-147097262	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs139609186	chr7:147097315-147097316	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs574861894	chr7:147097354-147097355	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs1528514	chr7:147097358-147097359	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147095400-147120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147096000-147096200	Enhancers	Fetal Lung	lung
3	chr7:147096200-147097400	Weak transcription	Fetal Lung	lung
4	chr7:147096400-147097200	Enhancers	Brain Germinal Matrix	brain
5	chr7:147097000-147097200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:147097000-147097200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:147097000-147097200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:147097000-147097400	Enhancers	Osteobl	bone
9	chr7:147097200-147097400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:147097200-147097400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:147097200-147097400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:147097200-147097400	Active TSS	Adipose Nuclei	Adipose
13	chr7:147097200-147097400	Enhancers	HSMMtube	muscle
14	chr7:147097200-147097400	Enhancers	NHDF-Ad	bronchial
15	chr7:147097200-147097600	Enhancers	Fetal Brain Male	brain
16	chr7:147097200-147097600	Enhancers	Ovary	ovary
17	chr7:147097200-147097800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:147097200-147097800	Weak transcription	Brain Germinal Matrix	brain
19	chr7:147097200-147098000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:147097200-147098200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:147097200-147098400	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links