Variant report

Variant	esv16330
Chromosome Location	chr7:4105563-4106213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7802663	chr7:4105574-4105575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7801816	chr7:4105632-4105633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7801843	chr7:4105705-4105706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7801852	chr7:4105721-4105722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371148202	chr7:4105731-4105732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116264562	chr7:4105763-4105764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551132256	chr7:4105765-4105766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7801978	chr7:4105788-4105789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540114917	chr7:4105789-4105790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112777935	chr7:4105829-4105830	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553344698	chr7:4105844-4105845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566549450	chr7:4105847-4105848	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535424291	chr7:4105858-4105859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374413459	chr7:4105896-4105897	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372620420	chr7:4105905-4105906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555475440	chr7:4105906-4105907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575315922	chr7:4105923-4105924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544051406	chr7:4105926-4105927	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557926380	chr7:4105928-4105929	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10231929	chr7:4105936-4105937	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs544471725	chr7:4105993-4105994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540522490	chr7:4106029-4106030	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562856319	chr7:4106037-4106038	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112235055	chr7:4106047-4106048	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528910288	chr7:4106067-4106068	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542626672	chr7:4106083-4106084	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78282392	chr7:4106084-4106085	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548500492	chr7:4106091-4106092	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10262417	chr7:4106122-4106123	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531431101	chr7:4106153-4106154	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6971090	chr7:4106198-4106199	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs571032326	chr7:4106199-4106200	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181967843	chr7:4106205-4106206	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114678300	chr7:4106206-4106207	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4087600-4111800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:4088800-4129400	Weak transcription	Right Ventricle	heart
3	chr7:4096000-4116400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:4097200-4110000	Weak transcription	Gastric	stomach
5	chr7:4097400-4105800	Weak transcription	Aorta	Aorta
6	chr7:4097400-4106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:4097400-4106800	Weak transcription	Pancreas	Pancrea
8	chr7:4097400-4108800	Weak transcription	Fetal Intestine Small	intestine
9	chr7:4097400-4109000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:4097400-4109400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:4103000-4125600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:4103200-4106000	Weak transcription	Spleen	Spleen
13	chr7:4104800-4116400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:4105000-4106200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:4105000-4109200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:4105200-4106400	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:4105200-4106600	Weak transcription	Fetal Brain Male	brain
18	chr7:4105200-4109000	Weak transcription	Fetal Stomach	stomach
19	chr7:4105200-4111000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:4105200-4117000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:4105200-4120200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:4105400-4105600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:4105600-4111000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:4105800-4106400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:4105800-4110200	Strong transcription	Aorta	Aorta
26	chr7:4106000-4106200	Enhancers	Spleen	Spleen
27	chr7:4106000-4110600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:4106200-4106400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:4106200-4106400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:4106200-4106600	Weak transcription	Spleen	Spleen
31	chr7:4106200-4107200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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