Variant report

Variant	nsv966785
Chromosome Location	chr7:40205005-40220458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 547 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73687511	chr7:40205046-40205047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369585690	chr7:40205057-40205058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560662312	chr7:40205060-40205061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190722045	chr7:40205071-40205072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577364421	chr7:40205085-40205086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145169300	chr7:40205114-40205115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28681038	chr7:40205125-40205126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546033722	chr7:40205156-40205157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563106076	chr7:40205163-40205164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531656675	chr7:40205189-40205190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548295240	chr7:40205236-40205237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202108774	chr7:40205330-40205331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199983658	chr7:40205352-40205353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561723027	chr7:40205382-40205383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527712171	chr7:40205467-40205468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547668532	chr7:40205545-40205546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182552385	chr7:40205585-40205586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188402889	chr7:40205594-40205595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549678108	chr7:40205640-40205641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372603242	chr7:40205670-40205671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535521236	chr7:40205687-40205688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149405485	chr7:40205689-40205690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76146992	chr7:40205833-40205834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374950576	chr7:40205956-40205957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368689103	chr7:40205960-40205961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534367369	chr7:40205962-40205963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113459779	chr7:40206003-40206004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577426141	chr7:40206012-40206013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546491790	chr7:40206041-40206042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556307915	chr7:40206065-40206066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190699568	chr7:40206162-40206163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541904052	chr7:40206163-40206164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561885349	chr7:40206178-40206179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527785334	chr7:40206182-40206183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541027938	chr7:40206293-40206294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557628942	chr7:40206312-40206313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183042440	chr7:40206363-40206364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533052705	chr7:40206376-40206377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59694915	chr7:40206385-40206386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55798639	chr7:40206405-40206406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188744827	chr7:40206411-40206412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572535624	chr7:40206417-40206418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529142649	chr7:40206435-40206436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549095065	chr7:40206441-40206442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565732965	chr7:40206455-40206456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34209472	chr7:40206486-40206487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80036775	chr7:40206487-40206488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61593899	chr7:40206502-40206503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375309591	chr7:40206503-40206504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6970173	chr7:40206559-40206560	Weak transcription	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40197200-40206800	Weak transcription	Fetal Intestine Small	intestine
2	chr7:40198200-40207000	Weak transcription	Fetal Intestine Large	intestine
3	chr7:40206800-40209200	Enhancers	Fetal Intestine Small	intestine
4	chr7:40207000-40209800	Enhancers	Fetal Intestine Large	intestine
5	chr7:40209800-40222200	Weak transcription	Fetal Intestine Large	intestine
6	chr7:40210400-40210600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:40210600-40212000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:40210800-40211400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:40212000-40212400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:40215000-40215800	Enhancers	Liver	Liver
11	chr7:40215200-40215400	Enhancers	HSMMtube	muscle
12	chr7:40215200-40215600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:40215200-40216200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:40215400-40215600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:40215400-40215800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:40215400-40215800	Enhancers	NH-A	brain
17	chr7:40215400-40234000	Weak transcription	HSMMtube	muscle
18	chr7:40215600-40216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:40215600-40234200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:40215600-40234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:40215800-40221800	Weak transcription	Liver	Liver
22	chr7:40215800-40234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:40218600-40232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:40219400-40219800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:40219800-40222200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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