Variant report

Variant	esv3418645
Chromosome Location	chr7:145601569-145603517
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	chr7:145587303..145590118-chr7:145598961..145602671,3	K562	blood:
2	chr7:145587469..145590118-chr7:145600376..145602671,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 90 )

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	rs537542726	chr7:145601592-145601593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556263676	chr7:145601598-145601599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6976666	chr7:145601650-145601651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564809136	chr7:145601681-145601682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6957251	chr7:145601686-145601687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553374383	chr7:145601755-145601756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573163589	chr7:145601772-145601773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534252581	chr7:145601793-145601794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558703236	chr7:145601805-145601806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577412142	chr7:145601816-145601817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544490433	chr7:145601833-145601834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562956744	chr7:145601837-145601838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574859848	chr7:145601857-145601858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117941307	chr7:145601965-145601966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560506108	chr7:145601991-145601992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576441113	chr7:145602042-145602043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552552958	chr7:145602098-145602099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73736293	chr7:145602108-145602109	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73736294	chr7:145602127-145602128	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549712669	chr7:145602132-145602133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77871968	chr7:145602201-145602202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76671879	chr7:145602202-145602203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556226636	chr7:145602205-145602206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78352880	chr7:145602209-145602210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370763637	chr7:145602229-145602230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184197960	chr7:145602232-145602233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369172840	chr7:145602233-145602234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36114988	chr7:145602243-145602244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55834596	chr7:145602250-145602251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12665931	chr7:145602252-145602253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201101299	chr7:145602253-145602254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67581437	chr7:145602254-145602255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58818278	chr7:145602263-145602264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536065525	chr7:145602342-145602343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545005904	chr7:145602362-145602363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58381992	chr7:145602365-145602366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369931269	chr7:145602381-145602382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113976063	chr7:145602382-145602383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149654911	chr7:145602399-145602400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374321658	chr7:145602409-145602410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10227797	chr7:145602502-145602503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148394010	chr7:145602541-145602542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73736295	chr7:145602603-145602604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187364894	chr7:145602612-145602613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542370885	chr7:145602654-145602655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73736296	chr7:145602664-145602665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs80330557	chr7:145602675-145602676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546227297	chr7:145602726-145602727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113598532	chr7:145602732-145602733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74971734	chr7:145602738-145602739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145598000-145614000	Weak transcription	K562	blood
2	chr7:145602000-145602400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:145602400-145602800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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