Variant report

Variant	nsv519590
Chromosome Location	chr7:146571183-146590150
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	chr7:146570862..146573024-chr7:146579800..146582486,2	K562	blood:
2	chr7:146570862..146573024-chr7:146579800..146582486,2	K562	blood:

Extended variants
information (count: 399 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6976996	chr7:146571813-146571814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115613999	chr7:146571837-146571838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572239497	chr7:146571850-146571851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187914179	chr7:146571857-146571858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73170380	chr7:146571872-146571873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554454742	chr7:146571952-146571953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76869589	chr7:146571958-146571959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139374552	chr7:146571991-146571992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192004393	chr7:146572008-146572009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531361567	chr7:146572012-146572013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541428076	chr7:146572061-146572062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116196660	chr7:146572085-146572086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75708793	chr7:146572090-146572091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17170285	chr7:146572264-146572265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6942401	chr7:146572276-146572277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs145522921	chr7:146572279-146572280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185240938	chr7:146572280-146572281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58573270	chr7:146572327-146572328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377421204	chr7:146572336-146572337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569815511	chr7:146572364-146572365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61683084	chr7:146572372-146572373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555368405	chr7:146572379-146572380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9640487	chr7:146572444-146572445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6943872	chr7:146572491-146572492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76525969	chr7:146572588-146572589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538198044	chr7:146572591-146572592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553458430	chr7:146572597-146572598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145039873	chr7:146572599-146572600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557786279	chr7:146572621-146572622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577822003	chr7:146572666-146572667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543628872	chr7:146572676-146572677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113206384	chr7:146572766-146572767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188153086	chr7:146572767-146572768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147573877	chr7:146572805-146572806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111614758	chr7:146572815-146572816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540494397	chr7:146572819-146572820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562289081	chr7:146572841-146572842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561713210	chr7:146572850-146572851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572061583	chr7:146572854-146572855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576363259	chr7:146572862-146572863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541130931	chr7:146572870-146572871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564141987	chr7:146572887-146572888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533166186	chr7:146572935-146572936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35871585	chr7:146572969-146572970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551158258	chr7:146572972-146572973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372322463	chr7:146572989-146572990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4421282	chr7:146572997-146572998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370567494	chr7:146572998-146572999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144916213	chr7:146572999-146573000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558486626	chr7:146573027-146573028	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146571800-146573200	Enhancers	Fetal Brain Male	brain
2	chr7:146571800-146573800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:146572000-146572800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:146572000-146572800	Enhancers	Brain Germinal Matrix	brain
5	chr7:146572000-146573400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:146572000-146573400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:146572000-146574000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:146572000-146574200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:146572200-146572800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:146572200-146573400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:146572200-146573600	Enhancers	Fetal Brain Female	brain
12	chr7:146572400-146573400	Enhancers	Fetal Stomach	stomach
13	chr7:146572600-146573400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:146572600-146573400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:146572600-146573600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:146572800-146573200	Enhancers	Ovary	ovary
17	chr7:146572800-146574000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:146573200-146573800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:146573200-146574000	Enhancers	Fetal Lung	lung
20	chr7:146573800-146577200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:146577200-146577600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:146577600-146578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:146582800-146584400	Enhancers	Fetal Brain Male	brain
24	chr7:146587000-146587600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:146589000-146589400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:146589200-146589600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:146589400-146589800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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