Variant report

Variant	nsv521212
Chromosome Location	chr7:146537761-146547009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:
2	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

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

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:2 , 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

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