Variant report

Variant	nsv817275
Chromosome Location	chr7:146346102-146475758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
2	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
3	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
4	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
5	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
6	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
7	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
8	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
9	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:

No data

Extended variants
information (count: 2332 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2332 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183182271	chr7:146346109-146346110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34495755	chr7:146346110-146346111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531408478	chr7:146346140-146346141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548453340	chr7:146346167-146346168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145817132	chr7:146346175-146346176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7810281	chr7:146346207-146346208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543817278	chr7:146346216-146346217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553915022	chr7:146346351-146346352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570877357	chr7:146346373-146346374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369787644	chr7:146346387-146346388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556697857	chr7:146346390-146346391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187861563	chr7:146346412-146346413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542483398	chr7:146346431-146346432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556023601	chr7:146346458-146346459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114731318	chr7:146346471-146346472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541724905	chr7:146346472-146346473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559866683	chr7:146346514-146346515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192078345	chr7:146346591-146346592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545450363	chr7:146346667-146346668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141700459	chr7:146346670-146346671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531398066	chr7:146346714-146346715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565148362	chr7:146346716-146346717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185453724	chr7:146346797-146346798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527559347	chr7:146346828-146346829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77345065	chr7:146346878-146346879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532045156	chr7:146346890-146346891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371755043	chr7:146346900-146346901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556687276	chr7:146346909-146346910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188418133	chr7:146346932-146346933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115976439	chr7:146346939-146346940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555645837	chr7:146346942-146346943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192821280	chr7:146346975-146346976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147086729	chr7:146346983-146346984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558036111	chr7:146347006-146347007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576418495	chr7:146347065-146347066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545438195	chr7:146347154-146347155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35075537	chr7:146347158-146347159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138763239	chr7:146347193-146347194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114865235	chr7:146347202-146347203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547092886	chr7:146347259-146347260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561707079	chr7:146347263-146347264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141213277	chr7:146347276-146347277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527486878	chr7:146347281-146347282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7458498	chr7:146347287-146347288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184866966	chr7:146347288-146347289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533362966	chr7:146347338-146347339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188162100	chr7:146347380-146347381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570080207	chr7:146347381-146347382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7456508	chr7:146347399-146347400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141794601	chr7:146347438-146347439	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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146343400-146348800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:146345200-146348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:146345200-146353200	Weak transcription	Fetal Thymus	thymus
4	chr7:146345400-146348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:146348200-146352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:146348400-146355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:146348600-146355000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:146348800-146350400	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:146350000-146351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:146350400-146351400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:146350800-146351600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:146350800-146351600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:146351000-146351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:146351200-146351400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:146351400-146352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:146351400-146352600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:146351400-146354600	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:146351600-146353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:146352200-146352400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:146352400-146353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:146352600-146353400	Enhancers	Fetal Kidney	kidney
22	chr7:146352600-146354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:146352800-146353800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:146353000-146353400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:146353000-146353400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:146353000-146353400	Enhancers	Fetal Brain Male	brain
27	chr7:146353000-146353400	Enhancers	Fetal Lung	lung
28	chr7:146353000-146353800	Enhancers	Fetal Brain Female	brain
29	chr7:146353200-146353800	Enhancers	Fetal Thymus	thymus
30	chr7:146353200-146354000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:146353400-146357800	Weak transcription	Fetal Lung	lung
32	chr7:146353400-146358000	Weak transcription	Fetal Brain Male	brain
33	chr7:146353600-146353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:146353600-146354000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:146353800-146354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:146353800-146355000	Weak transcription	Fetal Thymus	thymus
37	chr7:146353800-146358000	Weak transcription	Fetal Brain Female	brain
38	chr7:146354600-146356000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:146354800-146355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:146355000-146355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:146355000-146358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:146355200-146355400	Enhancers	Fetal Thymus	thymus
43	chr7:146355400-146356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:146355800-146358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:146356000-146356200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:146356000-146356400	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:146356400-146358200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:146356600-146357800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:146357800-146358200	Enhancers	Fetal Heart	heart
50	chr7:146357800-146358600	Enhancers	Fetal Lung	lung

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