Variant report

Variant	nsv1021923
Chromosome Location	chr7:146344105-146442062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
2	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
3	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
4	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:
5	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
6	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
7	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:

Extended variants
information (count: 2075 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10258848	chr7:146344105-146344106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543951281	chr7:146344192-146344193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190037268	chr7:146344198-146344199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552614813	chr7:146344228-146344229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552682955	chr7:146344248-146344249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571212128	chr7:146344280-146344281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10262146	chr7:146344283-146344284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs557085629	chr7:146344299-146344300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567418531	chr7:146344305-146344306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149530677	chr7:146344350-146344351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553169570	chr7:146344351-146344352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180827722	chr7:146344355-146344356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144060621	chr7:146344369-146344370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185924581	chr7:146344373-146344374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538825596	chr7:146344375-146344376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553967022	chr7:146344443-146344444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs344482	chr7:146344455-146344456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544245619	chr7:146344457-146344458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71872768	chr7:146344467-146344468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200241504	chr7:146344469-146344470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201532703	chr7:146344470-146344471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531675888	chr7:146344475-146344476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561025602	chr7:146344485-146344486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537138388	chr7:146344543-146344544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188298208	chr7:146344580-146344581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115852706	chr7:146344602-146344603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28714386	chr7:146344663-146344664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181839839	chr7:146344696-146344697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186496725	chr7:146344699-146344700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554861272	chr7:146344729-146344730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139900872	chr7:146344733-146344734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530518228	chr7:146344746-146344747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550625786	chr7:146344751-146344752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73739757	chr7:146344801-146344802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143707362	chr7:146344833-146344834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546399674	chr7:146344851-146344852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368784663	chr7:146344856-146344857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566615883	chr7:146344914-146344915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146318052	chr7:146344924-146344925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372987199	chr7:146344932-146344933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374404363	chr7:146344940-146344941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79776332	chr7:146344986-146344987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575187624	chr7:146345069-146345070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190581095	chr7:146345176-146345177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537833912	chr7:146345178-146345179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558225856	chr7:146345198-146345199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554508887	chr7:146345227-146345228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182099631	chr7:146345229-146345230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576491696	chr7:146345270-146345271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574759202	chr7:146345325-146345326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146342400-146345400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:146342600-146345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:146343400-146348800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:146343600-146345200	Enhancers	Fetal Thymus	thymus
5	chr7:146344000-146344200	Enhancers	Pancreas	Pancrea
6	chr7:146344200-146345000	Weak transcription	Pancreas	Pancrea
7	chr7:146345000-146345200	Enhancers	Pancreas	Pancrea
8	chr7:146345200-146348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:146345200-146353200	Weak transcription	Fetal Thymus	thymus
10	chr7:146345400-146348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:146348200-146352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:146348400-146355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:146348600-146355000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:146348800-146350400	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:146350000-146351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:146350400-146351400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:146350800-146351600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:146350800-146351600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:146351000-146351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:146351200-146351400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:146351400-146352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:146351400-146352600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:146351400-146354600	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:146351600-146353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:146352200-146352400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:146352400-146353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:146352600-146353400	Enhancers	Fetal Kidney	kidney
28	chr7:146352600-146354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:146352800-146353800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:146353000-146353400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:146353000-146353400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:146353000-146353400	Enhancers	Fetal Brain Male	brain
33	chr7:146353000-146353400	Enhancers	Fetal Lung	lung
34	chr7:146353000-146353800	Enhancers	Fetal Brain Female	brain
35	chr7:146353200-146353800	Enhancers	Fetal Thymus	thymus
36	chr7:146353200-146354000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:146353400-146357800	Weak transcription	Fetal Lung	lung
38	chr7:146353400-146358000	Weak transcription	Fetal Brain Male	brain
39	chr7:146353600-146353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:146353600-146354000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:146353800-146354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:146353800-146355000	Weak transcription	Fetal Thymus	thymus
43	chr7:146353800-146358000	Weak transcription	Fetal Brain Female	brain
44	chr7:146354600-146356000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:146354800-146355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:146355000-146355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:146355000-146358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:146355200-146355400	Enhancers	Fetal Thymus	thymus
49	chr7:146355400-146356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:146355800-146358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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