Variant report

Variant	esv2756053
Chromosome Location	chr7:3910039-3920129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 538 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:538 , 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	rs191388391	chr7:3910051-3910052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372286463	chr7:3910056-3910057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182807949	chr7:3910064-3910065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540529452	chr7:3910065-3910066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560230271	chr7:3910086-3910087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112300507	chr7:3910087-3910088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75285862	chr7:3910107-3910108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376795977	chr7:3910110-3910111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10251587	chr7:3910201-3910202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78528915	chr7:3910202-3910203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537284011	chr7:3910239-3910240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528575993	chr7:3910251-3910252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6977844	chr7:3910257-3910258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190681714	chr7:3910267-3910268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550718226	chr7:3910286-3910287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570709387	chr7:3910299-3910300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111419428	chr7:3910314-3910315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182356415	chr7:3910318-3910319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141969761	chr7:3910320-3910321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566884281	chr7:3910339-3910340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535450705	chr7:3910359-3910360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112713289	chr7:3910387-3910388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371530413	chr7:3910402-3910403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10226220	chr7:3910406-3910407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538040940	chr7:3910425-3910426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558031280	chr7:3910431-3910432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577902581	chr7:3910443-3910444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10244636	chr7:3910490-3910491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs145718572	chr7:3910491-3910492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573599062	chr7:3910513-3910514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112340753	chr7:3910530-3910531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187840129	chr7:3910536-3910537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531352748	chr7:3910543-3910544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544698187	chr7:3910544-3910545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564376487	chr7:3910591-3910592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116253188	chr7:3910628-3910629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546908787	chr7:3910634-3910635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567016934	chr7:3910637-3910638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192600009	chr7:3910650-3910651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6961561	chr7:3910657-3910658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs569229671	chr7:3910663-3910664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78130307	chr7:3910667-3910668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538383169	chr7:3910676-3910677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558266632	chr7:3910680-3910681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77306795	chr7:3910691-3910692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368027251	chr7:3910733-3910734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12690803	chr7:3910750-3910751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs554045556	chr7:3910755-3910756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200291112	chr7:3910783-3910784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148901334	chr7:3910804-3910805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
2	chr7:3906800-3949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3909200-3914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3914000-3914200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:3914200-3923800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:3918800-3919200	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:3918800-3920000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:3918800-3920600	Enhancers	Fetal Brain Male	brain
9	chr7:3919000-3919400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:3919000-3920000	Enhancers	Fetal Brain Female	brain
11	chr7:3919000-3920200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:3919000-3920200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr7:3919000-3920200	Enhancers	Fetal Stomach	stomach
14	chr7:3919000-3920600	Enhancers	Fetal Lung	lung
15	chr7:3919000-3920600	Enhancers	Fetal Muscle Leg	muscle
16	chr7:3919200-3919600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr7:3919200-3919800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr7:3919200-3919800	Enhancers	Fetal Heart	heart
19	chr7:3919200-3919800	Enhancers	K562	blood
20	chr7:3919400-3919800	Enhancers	Brain Germinal Matrix	brain
21	chr7:3919400-3920000	Enhancers	Stomach Mucosa	stomach
22	chr7:3919600-3920400	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:3919800-3920200	Enhancers	Gastric	stomach
24	chr7:3919800-3924000	Weak transcription	Fetal Heart	heart

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