Variant report

Variant	esv3392451
Chromosome Location	chr7:125730366-125732364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553497197	chr7:125730388-125730389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538499360	chr7:125730395-125730396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs77988513	chr7:125730439-125730440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184533414	chr7:125730478-125730479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574014030	chr7:125730550-125730551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554420808	chr7:125730577-125730578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111383327	chr7:125730580-125730581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576308301	chr7:125730595-125730596	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543320979	chr7:125730599-125730600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs143513792	chr7:125730624-125730625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201738007	chr7:125730629-125730630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35222360	chr7:125730636-125730637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367713373	chr7:125730641-125730642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56240350	chr7:125730642-125730643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115599039	chr7:125730654-125730655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10228582	chr7:125730694-125730695	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117725246	chr7:125730695-125730696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189307984	chr7:125730704-125730705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374588841	chr7:125730792-125730793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531117487	chr7:125730798-125730799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56290427	chr7:125730821-125730822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570805503	chr7:125730822-125730823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532021043	chr7:125730941-125730942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367783025	chr7:125730945-125730946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192259202	chr7:125730959-125730960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572790050	chr7:125731015-125731016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546949836	chr7:125731029-125731030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116763576	chr7:125731045-125731046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72175130	chr7:125731060-125731061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200367624	chr7:125731082-125731083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535940154	chr7:125731157-125731158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184280954	chr7:125731176-125731177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36154242	chr7:125731198-125731199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188644028	chr7:125731203-125731204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117343604	chr7:125731230-125731231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79951361	chr7:125731267-125731268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10523393	chr7:125731316-125731317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35684843	chr7:125731317-125731318	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10258586	chr7:125731318-125731319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10258587	chr7:125731320-125731321	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs71177518	chr7:125731336-125731337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558627891	chr7:125731369-125731370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199787766	chr7:125731382-125731383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1557760	chr7:125731421-125731422	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535018838	chr7:125731436-125731437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73723107	chr7:125731445-125731446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541991754	chr7:125731485-125731486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563781540	chr7:125731511-125731512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112851319	chr7:125731520-125731521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181166093	chr7:125731547-125731548	ZNF genes & repeats 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
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	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125719400-125731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125724800-125730600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:125727800-125732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:125730200-125734400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:125731400-125733800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:125731800-125734400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:125732000-125733000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr7:125732200-125732600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:125732200-125732800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr7:125732200-125734000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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