Variant report

Variant	esv2757223
Chromosome Location	chr7:40384030-40497278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000065883	chromatin interactions
ENSG00000259826	chromatin interactions

Extended variants
information (count: 2991 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2991 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12155132	chr7:40384030-40384031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373276030	chr7:40384093-40384094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571790315	chr7:40384099-40384100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541051998	chr7:40384117-40384118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557468112	chr7:40384122-40384123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189051065	chr7:40384143-40384144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557096641	chr7:40384150-40384151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546140630	chr7:40384156-40384157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563078788	chr7:40384159-40384160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531914939	chr7:40384209-40384210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542358694	chr7:40384250-40384251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73688050	chr7:40384336-40384337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373812364	chr7:40384347-40384348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527780615	chr7:40384356-40384357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62453365	chr7:40384400-40384401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373604403	chr7:40384401-40384402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538460295	chr7:40384451-40384452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181454452	chr7:40384481-40384482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11770113	chr7:40384494-40384495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372252133	chr7:40384502-40384503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533258008	chr7:40384512-40384513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371138457	chr7:40384513-40384514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546067514	chr7:40384515-40384516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374142336	chr7:40384549-40384550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184581148	chr7:40384567-40384568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13232967	chr7:40384575-40384576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565487767	chr7:40384614-40384615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113696392	chr7:40384615-40384616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554653393	chr7:40384622-40384623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371383239	chr7:40384846-40384847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138836663	chr7:40384899-40384900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188549857	chr7:40384936-40384937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577521807	chr7:40384947-40384948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540148939	chr7:40384954-40384955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556863026	chr7:40385000-40385001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181487985	chr7:40385021-40385022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149373244	chr7:40385070-40385071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368654303	chr7:40385121-40385122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564809709	chr7:40385165-40385166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185872102	chr7:40385192-40385193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572510254	chr7:40385204-40385205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541117927	chr7:40385222-40385223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564525933	chr7:40385443-40385444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557725779	chr7:40385511-40385512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374490621	chr7:40385538-40385539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199743154	chr7:40385552-40385553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373835360	chr7:40385553-40385554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533138799	chr7:40385561-40385562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201323311	chr7:40385606-40385607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549746877	chr7:40385767-40385768	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:267 , 50 per page) page: 1 2 3 4 5 6

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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