Variant report

Variant	nsv818568
Chromosome Location	chr7:146537761-146572276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146570862..146573024-chr7:146579800..146582486,2	K562	blood:
2	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:
3	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:

Extended variants
information (count: 244 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11984177	chr7:146537761-146537762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564439339	chr7:146537766-146537767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571145060	chr7:146537795-146537796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542545303	chr7:146546400-146546401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28626748	chr7:146546427-146546428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370837292	chr7:146546443-146546444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117993389	chr7:146546459-146546460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117121594	chr7:146546484-146546485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190056154	chr7:146546509-146546510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183197680	chr7:146546524-146546525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544214110	chr7:146546527-146546528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187861331	chr7:146546531-146546532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376023950	chr7:146546563-146546564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555961646	chr7:146546571-146546572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28461908	chr7:146546576-146546577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577700266	chr7:146546587-146546588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545613175	chr7:146546604-146546605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545260018	chr7:146546714-146546715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75428020	chr7:146546732-146546733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567068395	chr7:146546738-146546739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28502148	chr7:146546790-146546791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28733796	chr7:146546810-146546811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs28378268	chr7:146546814-146546815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116661453	chr7:146546863-146546864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73740883	chr7:146546865-146546866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28459274	chr7:146546878-146546879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556679431	chr7:146546885-146546886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570258777	chr7:146546894-146546895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373499963	chr7:146546978-146546979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10238120	chr7:146546998-146546999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73740884	chr7:146547003-146547004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572610045	chr7:146547004-146547005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10238123	chr7:146547009-146547010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6955130	chr7:146547048-146547049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs147791941	chr7:146547049-146547050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371743879	chr7:146547055-146547056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538526461	chr7:146547074-146547075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6955151	chr7:146547093-146547094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6954039	chr7:146547113-146547114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531578357	chr7:146547114-146547115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182892481	chr7:146547138-146547139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367758307	chr7:146547155-146547156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188640702	chr7:146547171-146547172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10238333	chr7:146547185-146547186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547830126	chr7:146547189-146547190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541619957	chr7:146557416-146557417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79473847	chr7:146557433-146557434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563614627	chr7:146557439-146557440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532540018	chr7:146557461-146557462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148673207	chr7:146557555-146557556	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
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146529400-146537800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:146546400-146547200	Enhancers	Brain Germinal Matrix	brain
3	chr7:146557400-146557600	Enhancers	Brain Germinal Matrix	brain
4	chr7:146557600-146558200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:146558200-146558400	Enhancers	Brain Germinal Matrix	brain
6	chr7:146558400-146559600	Weak transcription	Brain Germinal Matrix	brain
7	chr7:146558800-146560200	Enhancers	Fetal Brain Male	brain
8	chr7:146559000-146560200	Enhancers	Fetal Brain Female	brain
9	chr7:146559400-146559600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:146559400-146559800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:146559600-146560600	Enhancers	Brain Germinal Matrix	brain
12	chr7:146561400-146561800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:146561400-146561800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:146561800-146562800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:146562800-146563000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:146571800-146573200	Enhancers	Fetal Brain Male	brain
17	chr7:146571800-146573800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:146572000-146572800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:146572000-146572800	Enhancers	Brain Germinal Matrix	brain
20	chr7:146572000-146573400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:146572000-146573400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:146572000-146574000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:146572000-146574200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:146572200-146572800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:146572200-146573400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:146572200-146573600	Enhancers	Fetal Brain Female	brain

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