Variant report

Variant	esv34484
Chromosome Location	chr7:40383159-40489083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:40486893..40487438-chr7:40802655..40803441,2	MCF-7	breast:
2	chr20:57473196..57474009-chr7:40413360..40414065,2	MCF-7	breast:
3	chr7:39988445..39991258-chr7:40413776..40416750,2	K562	blood:

Variant related genes	Relation type
ENSG00000259826	chromatin interactions
ENSG00000065883	chromatin interactions

Extended variants
information (count: 2768 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2768 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6462975	chr7:40383159-40383160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370999231	chr7:40383185-40383186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530339045	chr7:40383208-40383209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547227445	chr7:40383230-40383231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560544169	chr7:40383260-40383261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532709080	chr7:40383267-40383268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533888428	chr7:40383287-40383288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552476502	chr7:40383294-40383295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112421674	chr7:40383341-40383342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369543670	chr7:40383342-40383343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538336621	chr7:40383348-40383349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555463247	chr7:40383404-40383405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548642068	chr7:40383416-40383417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184194328	chr7:40383491-40383492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187971887	chr7:40383501-40383502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375894232	chr7:40383502-40383503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111260813	chr7:40383517-40383518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140343576	chr7:40383526-40383527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539648086	chr7:40383534-40383535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185062563	chr7:40383564-40383565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575773825	chr7:40383587-40383588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541486027	chr7:40383588-40383589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554948375	chr7:40383599-40383600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571681770	chr7:40383602-40383603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540588092	chr7:40383639-40383640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73688047	chr7:40383650-40383651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532670789	chr7:40383742-40383743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374128927	chr7:40383756-40383757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56089082	chr7:40383763-40383764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563061706	chr7:40383799-40383800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529828203	chr7:40383804-40383805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60765497	chr7:40383853-40383854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548654486	chr7:40383914-40383915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112992266	chr7:40383930-40383931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527651929	chr7:40383931-40383932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10281352	chr7:40383936-40383937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570772999	chr7:40383945-40383946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539343719	chr7:40383964-40383965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150349931	chr7:40383972-40383973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376899829	chr7:40384014-40384015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569467112	chr7:40384023-40384024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12155132	chr7:40384030-40384031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373276030	chr7:40384093-40384094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571790315	chr7:40384099-40384100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541051998	chr7:40384117-40384118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557468112	chr7:40384122-40384123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189051065	chr7:40384143-40384144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557096641	chr7:40384150-40384151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546140630	chr7:40384156-40384157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563078788	chr7:40384159-40384160	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:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40381800-40387800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:40382000-40387400	Weak transcription	HMEC	breast
3	chr7:40382200-40387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:40386400-40387000	Enhancers	K562	blood
5	chr7:40386600-40387000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:40387000-40387400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:40387000-40394600	Weak transcription	K562	blood
8	chr7:40387400-40388200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:40387400-40389200	Enhancers	HMEC	breast
10	chr7:40387600-40388000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:40387600-40388000	Enhancers	Placenta	Placenta
12	chr7:40387600-40388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:40387600-40388200	Enhancers	Fetal Heart	heart
14	chr7:40387800-40388400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:40388000-40388200	Enhancers	Osteobl	bone
16	chr7:40388400-40388800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:40388400-40389000	Weak transcription	Osteobl	bone
18	chr7:40388800-40389000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:40389000-40389200	Enhancers	Osteobl	bone
20	chr7:40389000-40395800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:40389200-40394200	Weak transcription	Osteobl	bone
22	chr7:40393800-40395800	Enhancers	Adipose Nuclei	Adipose
23	chr7:40393800-40397600	Enhancers	Fetal Lung	lung
24	chr7:40394200-40394800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:40394200-40394800	Enhancers	Osteobl	bone
26	chr7:40394600-40395000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:40394600-40395000	Enhancers	K562	blood
28	chr7:40394800-40395800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:40394800-40395800	Weak transcription	Osteobl	bone
30	chr7:40395000-40396200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:40395600-40397200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:40395600-40397200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:40395600-40397200	Enhancers	HSMMtube	muscle
34	chr7:40395800-40396000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:40395800-40396800	Weak transcription	Adipose Nuclei	Adipose
36	chr7:40395800-40396800	Enhancers	HSMM	muscle
37	chr7:40395800-40397200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:40395800-40397200	Enhancers	Osteobl	bone
39	chr7:40395800-40397400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:40395800-40397600	Enhancers	NHDF-Ad	bronchial
41	chr7:40396000-40396600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:40396200-40397200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:40396800-40401400	Weak transcription	HSMM	muscle
44	chr7:40397000-40397200	Enhancers	Adipose Nuclei	Adipose
45	chr7:40397000-40397200	Enhancers	K562	blood
46	chr7:40397600-40398600	Weak transcription	Fetal Lung	lung
47	chr7:40398600-40398800	Enhancers	Fetal Lung	lung
48	chr7:40408800-40409600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:40408800-40409600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:40409000-40409800	Enhancers	Primary monocytes fromperipheralblood	blood

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