Variant report

Variant	esv3390813
Chromosome Location	chr7:145981644-145984192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182207482	chr7:145981651-145981652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs207468735	chr7:145981667-145981668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572473550	chr7:145981685-145981686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143247358	chr7:145981741-145981742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545878476	chr7:145981765-145981766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558090236	chr7:145981816-145981817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36066171	chr7:145981836-145981837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145612118	chr7:145981853-145981854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146518425	chr7:145981854-145981855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529083469	chr7:145981877-145981878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542833130	chr7:145981984-145981985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62503472	chr7:145982012-145982013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532998672	chr7:145982025-145982026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113801594	chr7:145982039-145982040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368134042	chr7:145982047-145982048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149075049	chr7:145982055-145982056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569626914	chr7:145982069-145982070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531930770	chr7:145982073-145982074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550043406	chr7:145982105-145982106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185090237	chr7:145982134-145982135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190017496	chr7:145982144-145982145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181262522	chr7:145982153-145982154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530515740	chr7:145982264-145982265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143140520	chr7:145982276-145982277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539912281	chr7:145982354-145982355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73740413	chr7:145982386-145982387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576363445	chr7:145982400-145982401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148317910	chr7:145982401-145982402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77342632	chr7:145982423-145982424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185646073	chr7:145982427-145982428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189616486	chr7:145982457-145982458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371589746	chr7:145982497-145982498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34002529	chr7:145982522-145982523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544224836	chr7:145982557-145982558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577707709	chr7:145982561-145982562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180977385	chr7:145982589-145982590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563167968	chr7:145982604-145982605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563410032	chr7:145982651-145982652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2693299	chr7:145982670-145982671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548539889	chr7:145982754-145982755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562045767	chr7:145982767-145982768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562386091	chr7:145982828-145982829	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375946442	chr7:145983023-145983024	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185147790	chr7:145983028-145983029	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374404477	chr7:145983071-145983072	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540809295	chr7:145983075-145983076	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114377259	chr7:145983122-145983123	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs77789745	chr7:145983141-145983142	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200882929	chr7:145983272-145983273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192181177	chr7:145983291-145983292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145963200-145987200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:145982800-145983000	Active TSS	HSMM	muscle
3	chr7:145983000-145983200	Flanking Active TSS	HSMM	muscle
4	chr7:145983200-145984200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:145983200-145984400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:145983400-145984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:145983400-145984600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:145983600-145983800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:145983600-145984200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:145984000-145984600	Enhancers	H9 Cell Line	embryonic stem cell

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