Variant report

Variant	nsv526693
Chromosome Location	chr7:147011388-147054250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:147018041..147019987-chr7:147042337..147044392,2	K562	blood:
2	chr1:83035755..83036717-chr7:147026373..147027195,2	MCF-7	breast:
3	chr7:147045457..147047946-chr7:147059907..147061995,2	K562	blood:
4	chr7:147018041..147019987-chr7:147042337..147044392,2	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543895757	chr7:147029810-147029811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563774579	chr7:147029811-147029812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563080979	chr7:147029846-147029847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549397153	chr7:147029847-147029848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180907771	chr7:147029870-147029871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185970729	chr7:147029902-147029903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551803784	chr7:147029904-147029905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539714225	chr7:147029912-147029913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571467608	chr7:147029919-147029920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533604088	chr7:147029989-147029990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191049011	chr7:147029991-147029992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549465001	chr7:147030007-147030008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569454860	chr7:147030098-147030099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535091544	chr7:147030102-147030103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76249055	chr7:147030201-147030202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78282604	chr7:147030252-147030253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183243711	chr7:147030257-147030258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1404702	chr7:147030258-147030259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1404701	chr7:147030299-147030300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543688386	chr7:147030300-147030301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563762029	chr7:147030315-147030316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549492550	chr7:147030318-147030319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574108771	chr7:147030341-147030342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187852593	chr7:147030355-147030356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559665552	chr7:147030378-147030379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1404700	chr7:147030379-147030380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190752390	chr7:147030382-147030383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565286530	chr7:147030390-147030391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs826793	chr7:147030861-147030862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561496883	chr7:147030871-147030872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377011278	chr7:147030903-147030904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530238005	chr7:147030925-147030926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369238112	chr7:147030930-147030931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557508722	chr7:147030940-147030941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12538269	chr7:147030984-147030985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567791541	chr7:147030995-147030996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116663480	chr7:147034801-147034802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566223753	chr7:147034824-147034825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534892039	chr7:147034830-147034831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547081480	chr7:147034846-147034847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570247586	chr7:147034867-147034868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371401964	chr7:147034875-147034876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571812077	chr7:147034909-147034910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538966648	chr7:147034952-147034953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578127645	chr7:147034954-147034955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575966278	chr7:147034957-147034958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144106137	chr7:147034991-147034992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186548860	chr7:147034998-147034999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs826801	chr7:147035011-147035012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541265730	chr7:147035032-147035033	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
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147029800-147030200	Enhancers	Fetal Lung	lung
2	chr7:147030000-147030200	Enhancers	Fetal Brain Male	brain
3	chr7:147030000-147030400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:147030800-147031000	Enhancers	Fetal Brain Male	brain
5	chr7:147034800-147035400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:147052200-147055800	Weak transcription	Brain Hippocampus Middle	brain

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