Variant report

Variant	nsv933697
Chromosome Location	chr7:145844438-145864611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186423041	chr7:145844450-145844451	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs34053851	chr7:145844456-145844457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567996877	chr7:145844467-145844468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535302804	chr7:145844471-145844472	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553544494	chr7:145844485-145844486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565649949	chr7:145844502-145844503	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539488249	chr7:145844542-145844543	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560156389	chr7:145844587-145844588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191134918	chr7:145844595-145844596	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34375929	chr7:145844602-145844603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556938778	chr7:145844614-145844615	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575206724	chr7:145844641-145844642	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542446209	chr7:145844649-145844650	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570471931	chr7:145844711-145844712	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113436775	chr7:145844777-145844778	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546248912	chr7:145844783-145844784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564401080	chr7:145844984-145844985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7456816	chr7:145845090-145845091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182967959	chr7:145845100-145845101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549753342	chr7:145845133-145845134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1568940	chr7:145845154-145845155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187430292	chr7:145845174-145845175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1526077	chr7:145845198-145845199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547208216	chr7:145845204-145845205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565843342	chr7:145845219-145845220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147829929	chr7:145845225-145845226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551491033	chr7:145845227-145845228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569642383	chr7:145845234-145845235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537090206	chr7:145845238-145845239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555357092	chr7:145845302-145845303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553121487	chr7:145845378-145845379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111694740	chr7:145845400-145845401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10216036	chr7:145845401-145845402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536121114	chr7:145845409-145845410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs959411	chr7:145845418-145845419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs572628977	chr7:145845430-145845431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546062302	chr7:145845464-145845465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371302619	chr7:145845500-145845501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554748871	chr7:145845510-145845511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564642118	chr7:145845543-145845544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576123024	chr7:145845558-145845559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200235273	chr7:145845611-145845612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549959201	chr7:145845631-145845632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141627458	chr7:145845645-145845646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571306097	chr7:145845661-145845662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150438692	chr7:145845679-145845680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543702061	chr7:145845707-145845708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138141510	chr7:145845731-145845732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547702836	chr7:145845746-145845747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547319629	chr7:145845759-145845760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145841600-145844600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:145842600-145844800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:145842800-145845400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:145843400-145844800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:145843600-145846800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:145843600-145846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:145843800-145844600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:145843800-145844600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:145843800-145844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:145843800-145844800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:145843800-145847200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:145844000-145844600	Enhancers	NH-A	brain
13	chr7:145844000-145845200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:145844000-145845800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:145844200-145844600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:145844200-145844800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:145844400-145844800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:145844600-145844800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:145844600-145844800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:145844600-145846600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:145844800-145845000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:145844800-145845800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:145844800-145845800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:145845400-145845600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:145845800-145846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:145845800-145847400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:145846600-145847000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:145854400-145854800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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