Variant report

Variant	esv3402904
Chromosome Location	chr7:118497741-118500289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562566778	chr7:118497757-118497758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112530726	chr7:118497765-118497766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2590651	chr7:118497779-118497780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2590650	chr7:118497820-118497821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2590649	chr7:118497894-118497895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534010798	chr7:118497899-118497900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536127031	chr7:118497922-118497923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35444050	chr7:118498065-118498066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114011172	chr7:118498069-118498070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111233651	chr7:118498109-118498110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556181148	chr7:118498117-118498118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117433076	chr7:118498125-118498126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535534693	chr7:118498148-118498149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555852042	chr7:118498150-118498151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572513718	chr7:118498160-118498161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2590648	chr7:118498204-118498205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559091211	chr7:118498207-118498208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578261395	chr7:118498221-118498222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188217722	chr7:118498242-118498243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562427046	chr7:118498268-118498269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531335383	chr7:118498275-118498276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376952082	chr7:118498284-118498285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375247466	chr7:118498349-118498350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547946407	chr7:118498396-118498397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561834638	chr7:118498403-118498404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2590647	chr7:118498412-118498413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547594955	chr7:118498415-118498416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538225102	chr7:118498444-118498445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576968889	chr7:118498459-118498460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191521980	chr7:118498478-118498479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79555295	chr7:118498483-118498484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79166880	chr7:118498485-118498486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78063602	chr7:118498488-118498489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539309467	chr7:118498492-118498493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75002596	chr7:118498495-118498496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79396935	chr7:118498496-118498497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79042153	chr7:118498498-118498499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144462920	chr7:118498499-118498500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80331953	chr7:118498502-118498503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77097355	chr7:118498504-118498505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75813593	chr7:118498507-118498508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77745549	chr7:118498512-118498513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79694068	chr7:118498513-118498514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79325686	chr7:118498519-118498520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72484710	chr7:118498520-118498521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75282039	chr7:118498521-118498522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77753763	chr7:118498523-118498524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75266230	chr7:118498524-118498525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78962187	chr7:118498525-118498526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79740358	chr7:118498526-118498527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118495800-118498400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:118495800-118501000	Weak transcription	Fetal Lung	lung
3	chr7:118497000-118498600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:118497200-118498600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:118498600-118499000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:118498600-118499200	Active TSS	Esophagus	oesophagus
7	chr7:118498600-118499400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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