Variant report

Variant	esv3324143
Chromosome Location	chr7:3309026-3313224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551912007	chr7:3309027-3309028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76150615	chr7:3309161-3309162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573733160	chr7:3309215-3309216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116610918	chr7:3309229-3309230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540983071	chr7:3309235-3309236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527378917	chr7:3309252-3309253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559207471	chr7:3309253-3309254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374705986	chr7:3309301-3309302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12056105	chr7:3309312-3309313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73284331	chr7:3309323-3309324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149811388	chr7:3309325-3309326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147897934	chr7:3309355-3309356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564283121	chr7:3309424-3309425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569888183	chr7:3309438-3309439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538594815	chr7:3309458-3309459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558712446	chr7:3309469-3309470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572173035	chr7:3309475-3309476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200921796	chr7:3309491-3309492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202045174	chr7:3309492-3309493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140497733	chr7:3309495-3309496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111413454	chr7:3309500-3309501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550205331	chr7:3309504-3309505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12055919	chr7:3309516-3309517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71029657	chr7:3309523-3309524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138542550	chr7:3309524-3309525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370125425	chr7:3309525-3309526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12056130	chr7:3309554-3309555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201168703	chr7:3309596-3309597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372035898	chr7:3309597-3309598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370542422	chr7:3309601-3309602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545426312	chr7:3309606-3309607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537066154	chr7:3309612-3309613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527846884	chr7:3309626-3309627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566352711	chr7:3309629-3309630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547605798	chr7:3309635-3309636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59064718	chr7:3309662-3309663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529749400	chr7:3309671-3309672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372631303	chr7:3309700-3309701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549353295	chr7:3309743-3309744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569595267	chr7:3309776-3309777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538901855	chr7:3309782-3309783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551920046	chr7:3309787-3309788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565982551	chr7:3309822-3309823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534784913	chr7:3309824-3309825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557777219	chr7:3309862-3309863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192665845	chr7:3309938-3309939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574142136	chr7:3309990-3309991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543185553	chr7:3310029-3310030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112871497	chr7:3310037-3310038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182745238	chr7:3310082-3310083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3305400-3311000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3307800-3312800	Weak transcription	Aorta	Aorta
3	chr7:3308400-3311800	Weak transcription	NHLF	lung
4	chr7:3308400-3312200	Weak transcription	HSMM	muscle
5	chr7:3308400-3312200	Weak transcription	HSMMtube	muscle
6	chr7:3308600-3312000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:3308600-3312600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:3308800-3312000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:3308800-3312000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:3308800-3312000	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:3309000-3311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:3309000-3312000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:3311000-3311400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:3311400-3312600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:3311800-3313400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:3312000-3313000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:3312000-3313000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:3312000-3313200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:3312000-3313200	Enhancers	NH-A	brain
20	chr7:3312000-3313400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:3312000-3313400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:3312000-3313400	Enhancers	Fetal Muscle Leg	muscle
23	chr7:3312000-3313400	Enhancers	NHDF-Ad	bronchial
24	chr7:3312000-3313400	Enhancers	NHLF	lung
25	chr7:3312200-3312800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:3312200-3313200	Enhancers	HSMM	muscle
27	chr7:3312200-3313200	Enhancers	HSMMtube	muscle
28	chr7:3312200-3314200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:3312400-3313000	Enhancers	A549	lung
30	chr7:3312400-3314200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:3312600-3312800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:3312600-3312800	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:3312800-3313200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:3312800-3313400	Enhancers	Aorta	Aorta
35	chr7:3313200-3313800	Enhancers	Fetal Brain Male	brain

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