Variant report

Variant	esv3381779
Chromosome Location	chr7:40372761-40390134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 340 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573511479	chr7:40379001-40379002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542562603	chr7:40379012-40379013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556063338	chr7:40379029-40379030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188602091	chr7:40379041-40379042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs151143851	chr7:40379048-40379049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192338136	chr7:40379049-40379050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113133936	chr7:40379050-40379051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563701687	chr7:40379051-40379052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183307075	chr7:40379053-40379054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4598149	chr7:40379073-40379074	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187454232	chr7:40379078-40379079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528346874	chr7:40379079-40379080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150294345	chr7:40379095-40379096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112947823	chr7:40379105-40379106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537154341	chr7:40379126-40379127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191596126	chr7:40379127-40379128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567288024	chr7:40379128-40379129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536014384	chr7:40379136-40379137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111712309	chr7:40379146-40379147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144812634	chr7:40379174-40379175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs572825694	chr7:40379188-40379189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368966478	chr7:40379207-40379208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184113843	chr7:40379213-40379214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558342256	chr7:40379222-40379223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112370725	chr7:40379237-40379238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186624461	chr7:40379252-40379253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs142872857	chr7:40379275-40379276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113275358	chr7:40379286-40379287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573779499	chr7:40379292-40379293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192144479	chr7:40379301-40379302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559318241	chr7:40379327-40379328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114831833	chr7:40379332-40379333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148742065	chr7:40379333-40379334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565110333	chr7:40379357-40379358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532210924	chr7:40381006-40381007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4613890	chr7:40381031-40381032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568824361	chr7:40381034-40381035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564105434	chr7:40381054-40381055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531119946	chr7:40381082-40381083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73688044	chr7:40381192-40381193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567535110	chr7:40381249-40381250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140873469	chr7:40381295-40381296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553129541	chr7:40381362-40381363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149695095	chr7:40381376-40381377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73135089	chr7:40381540-40381541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185873328	chr7:40381550-40381551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540338021	chr7:40381612-40381613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561717189	chr7:40381614-40381615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73688045	chr7:40381706-40381707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575550414	chr7:40381733-40381734	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40372200-40372800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:40379000-40379400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:40381000-40381800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:40381000-40382000	Enhancers	HMEC	breast
5	chr7:40381000-40382200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:40381200-40382000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:40381800-40387800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:40382000-40387400	Weak transcription	HMEC	breast
9	chr7:40382200-40387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:40386400-40387000	Enhancers	K562	blood
11	chr7:40386600-40387000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:40387000-40387400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:40387000-40394600	Weak transcription	K562	blood
14	chr7:40387400-40388200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:40387400-40389200	Enhancers	HMEC	breast
16	chr7:40387600-40388000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:40387600-40388000	Enhancers	Placenta	Placenta
18	chr7:40387600-40388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:40387600-40388200	Enhancers	Fetal Heart	heart
20	chr7:40387800-40388400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:40388000-40388200	Enhancers	Osteobl	bone
22	chr7:40388400-40388800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:40388400-40389000	Weak transcription	Osteobl	bone
24	chr7:40388800-40389000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:40389000-40389200	Enhancers	Osteobl	bone
26	chr7:40389000-40395800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:40389200-40394200	Weak transcription	Osteobl	bone

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