Variant report

Variant	nsv889149
Chromosome Location	chr7:125153218-125196970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:125172761..125175135-chr7:125186431..125188601,2	K562	blood:
2	chr7:125172761..125175135-chr7:125186431..125188601,2	K562	blood:
3	chr7:125190321..125191930-chr7:125194449..125196273,2	K562	blood:
4	chr7:125190321..125191930-chr7:125194449..125196273,2	K562	blood:

Extended variants
information (count: 286 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555987156	chr7:125156225-125156226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575833395	chr7:125156264-125156265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1526397	chr7:125156296-125156297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559729148	chr7:125156322-125156323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189155821	chr7:125156324-125156325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557547884	chr7:125156400-125156401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75630173	chr7:125156430-125156431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564064126	chr7:125156439-125156440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116084214	chr7:125156451-125156452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181959648	chr7:125156472-125156473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577615032	chr7:125156475-125156476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73432134	chr7:125156485-125156486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190636267	chr7:125156521-125156522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76009250	chr7:125156597-125156598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557932716	chr7:125190809-125190810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369327355	chr7:125190851-125190852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577670970	chr7:125190889-125190890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528212268	chr7:125190894-125190895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145792461	chr7:125190901-125190902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577003405	chr7:125190924-125190925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563155516	chr7:125190960-125190961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528854922	chr7:125190976-125190977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191718460	chr7:125191002-125191003	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114666846	chr7:125191027-125191028	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566678172	chr7:125191125-125191126	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs527923509	chr7:125191163-125191164	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140291369	chr7:125191165-125191166	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115124709	chr7:125191169-125191170	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184881171	chr7:125191187-125191188	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75511223	chr7:125191189-125191190	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs12532859	chr7:125191199-125191200	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377429736	chr7:125191227-125191228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199905788	chr7:125191240-125191241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200373415	chr7:125191253-125191254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111983757	chr7:125191255-125191256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375417443	chr7:125191257-125191258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13312185	chr7:125191261-125191262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368038575	chr7:125191262-125191263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140837744	chr7:125191273-125191274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3993612	chr7:125191283-125191284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534868696	chr7:125191312-125191313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568661358	chr7:125191325-125191326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557996025	chr7:125191330-125191331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370388669	chr7:125191333-125191334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577735982	chr7:125191386-125191387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189433235	chr7:125191450-125191451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143016355	chr7:125191467-125191468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80229392	chr7:125191493-125191494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147043878	chr7:125191516-125191517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556953376	chr7:125191609-125191610	Weak transcription	n/a	n/a	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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125156200-125156600	Enhancers	Fetal Muscle Leg	muscle
2	chr7:125190800-125191200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:125191000-125191200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:125191000-125191200	ZNF genes & repeats	Right Atrium	heart
5	chr7:125191200-125211000	Weak transcription	Right Atrium	heart
6	chr7:125196000-125196400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:125196400-125196600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:125196600-125197800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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