Variant report

Variant	nsv889393
Chromosome Location	chr7:146353619-146428215
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	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
4	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
5	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:

Extended variants
information (count: 1378 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1378 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12540802	chr7:146353619-146353620	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370279518	chr7:146353620-146353621	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374664198	chr7:146353743-146353744	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs377541071	chr7:146353752-146353753	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11561896	chr7:146353773-146353774	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570673953	chr7:146353815-146353816	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139770445	chr7:146353831-146353832	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183918631	chr7:146353912-146353913	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187364195	chr7:146353963-146353964	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115184737	chr7:146353969-146353970	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533376938	chr7:146354000-146354001	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149360609	chr7:146354002-146354003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535139412	chr7:146354022-146354023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs714584	chr7:146354025-146354026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs529447820	chr7:146354037-146354038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569018199	chr7:146354054-146354055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549517665	chr7:146354055-146354056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565952808	chr7:146354106-146354107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534939661	chr7:146354114-146354115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558039825	chr7:146354126-146354127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373183902	chr7:146354153-146354154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570103082	chr7:146354166-146354167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200444077	chr7:146354178-146354179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191757787	chr7:146354221-146354222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555964109	chr7:146354239-146354240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371169640	chr7:146354250-146354251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541575353	chr7:146354256-146354257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77892330	chr7:146354298-146354299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572274714	chr7:146354333-146354334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541295439	chr7:146354419-146354420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564415666	chr7:146354420-146354421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533363101	chr7:146354447-146354448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368273407	chr7:146354497-146354498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540026497	chr7:146354548-146354549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563545753	chr7:146354554-146354555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73470671	chr7:146354583-146354584	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183204271	chr7:146354608-146354609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117587701	chr7:146354622-146354623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534474680	chr7:146354742-146354743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377548876	chr7:146354743-146354744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187537454	chr7:146354770-146354771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555823366	chr7:146354777-146354778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140220489	chr7:146354778-146354779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370661963	chr7:146354814-146354815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111863035	chr7:146354838-146354839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147723153	chr7:146354886-146354887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556091369	chr7:146354904-146354905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191619472	chr7:146354919-146354920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535488773	chr7:146354956-146354957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555514590	chr7:146355016-146355017	Weak transcription	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146348400-146355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:146348600-146355000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:146351400-146354600	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:146352600-146354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:146352800-146353800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:146353000-146353800	Enhancers	Fetal Brain Female	brain
7	chr7:146353200-146353800	Enhancers	Fetal Thymus	thymus
8	chr7:146353200-146354000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:146353400-146357800	Weak transcription	Fetal Lung	lung
10	chr7:146353400-146358000	Weak transcription	Fetal Brain Male	brain
11	chr7:146353600-146353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:146353600-146354000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:146353800-146354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:146353800-146355000	Weak transcription	Fetal Thymus	thymus
15	chr7:146353800-146358000	Weak transcription	Fetal Brain Female	brain
16	chr7:146354600-146356000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:146354800-146355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:146355000-146355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:146355000-146358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:146355200-146355400	Enhancers	Fetal Thymus	thymus
21	chr7:146355400-146356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:146355800-146358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:146356000-146356200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:146356000-146356400	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:146356400-146358200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:146356600-146357800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:146357800-146358200	Enhancers	Fetal Heart	heart
28	chr7:146357800-146358600	Enhancers	Fetal Lung	lung
29	chr7:146357800-146359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:146358000-146358200	Enhancers	Fetal Brain Female	brain
31	chr7:146358000-146358600	Enhancers	Fetal Brain Male	brain
32	chr7:146358000-146358800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:146358200-146359600	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:146358400-146358600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:146358800-146359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:146378200-146378400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:146378400-146379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:146379000-146379400	Enhancers	Stomach Mucosa	stomach
39	chr7:146379200-146380000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:146379400-146379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:146379400-146380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:146379800-146380000	Enhancers	Stomach Mucosa	stomach
43	chr7:146380400-146381000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:146386200-146386600	Enhancers	Brain Germinal Matrix	brain
45	chr7:146386600-146386800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:146387000-146390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:146387800-146388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:146390800-146391400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:146395800-146396000	Enhancers	Fetal Lung	lung
50	chr7:146396200-146398000	Weak transcription	Fetal Lung	lung

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