Variant report

Variant	nsv967474
Chromosome Location	chr7:146415212-146420744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:245 , 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	rs568250350	chr7:146415223-146415224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189836234	chr7:146415229-146415230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553495386	chr7:146415245-146415246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553665282	chr7:146415268-146415269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376735486	chr7:146415326-146415327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566255608	chr7:146415329-146415330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576797821	chr7:146415332-146415333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545821800	chr7:146415344-146415345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556601339	chr7:146415387-146415388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576498763	chr7:146415401-146415402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140877515	chr7:146415507-146415508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562093570	chr7:146415535-146415536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572617091	chr7:146415564-146415565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183188467	chr7:146415584-146415585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536407649	chr7:146415602-146415603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187390937	chr7:146415611-146415612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191834885	chr7:146415662-146415663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs41501455	chr7:146415736-146415737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144809547	chr7:146415752-146415753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114422447	chr7:146415836-146415837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576635527	chr7:146415888-146415889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367886632	chr7:146415890-146415891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73740815	chr7:146415898-146415899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112032857	chr7:146415902-146415903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548274897	chr7:146415915-146415916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568127995	chr7:146415955-146415956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114160949	chr7:146415958-146415959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140770372	chr7:146415960-146415961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558976298	chr7:146415971-146415972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375343484	chr7:146415974-146415975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528401547	chr7:146415975-146415976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556327711	chr7:146415990-146415991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145446778	chr7:146415994-146415995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148904114	chr7:146416000-146416001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555854097	chr7:146416022-146416023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572657367	chr7:146416023-146416024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188696861	chr7:146416032-146416033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73168714	chr7:146416053-146416054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564760698	chr7:146416074-146416075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192585236	chr7:146416098-146416099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542429520	chr7:146416167-146416168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547132803	chr7:146416199-146416200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182751484	chr7:146416208-146416209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145519101	chr7:146416226-146416227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73168715	chr7:146416248-146416249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531351051	chr7:146416257-146416258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186703400	chr7:146416334-146416335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9886115	chr7:146416345-146416346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141060982	chr7:146416350-146416351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547226906	chr7:146416390-146416391	Weak transcription	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146410800-146417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:146417000-146417800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:146417000-146417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:146417400-146417600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:146417600-146417800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:146417800-146422600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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