Variant report

Variant	nsv511993
Chromosome Location	chr7:137995439-137996420
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	chr7:137995053..137999099-chr7:138144129..138146392,3	K562	blood:

Variant related genes	Relation type
ENSG00000122779	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553894751	chr7:137995442-137995443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573523739	chr7:137995469-137995470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182297933	chr7:137995489-137995490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556128734	chr7:137995494-137995495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575906365	chr7:137995540-137995541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544547599	chr7:137995552-137995553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564517889	chr7:137995603-137995604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187048928	chr7:137995651-137995652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190584579	chr7:137995761-137995762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577952002	chr7:137995774-137995775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369983091	chr7:137995799-137995800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151306927	chr7:137995830-137995831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565593574	chr7:137995846-137995847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560193540	chr7:137995858-137995859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529088471	chr7:137995889-137995890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548782806	chr7:137995905-137995906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562314286	chr7:137995911-137995912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116027633	chr7:137995943-137995944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541648493	chr7:137995958-137995959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551345513	chr7:137995959-137995960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571260784	chr7:137995963-137995964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182719926	chr7:137995966-137995967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373063835	chr7:137995967-137995968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547541260	chr7:137995973-137995974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141745252	chr7:137996103-137996104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536315661	chr7:137996142-137996143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61662961	chr7:137996161-137996162	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs58533336	chr7:137996181-137996182	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200848144	chr7:137996192-137996193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575673154	chr7:137996229-137996230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555167860	chr7:137996247-137996248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs28703218	chr7:137996251-137996252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560937533	chr7:137996296-137996297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73159903	chr7:137996298-137996299	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542942047	chr7:137996327-137996328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs57156809	chr7:137996354-137996355	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185504142	chr7:137996364-137996365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190062964	chr7:137996401-137996402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146330822	chr7:137996415-137996416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75559747	chr7:137996417-137996418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201481103	chr7:137996418-137996419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	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
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137988600-137999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:137992800-137998600	Weak transcription	Placenta	Placenta
3	chr7:137995200-138012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:137995400-137998600	Weak transcription	HepG2	liver

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