Variant report

Variant	esv3477892
Chromosome Location	chr7:2898961-2899287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2840989..2843373-chr7:2899244..2901944,2	MCF-7	breast:
2	chr7:2898176..2901169-chr7:2925021..2926702,2	MCF-7	breast:
3	chr7:2726066..2728971-chr7:2898103..2899969,2	MCF-7	breast:
4	chr7:2896657..2898965-chr7:2903247..2905265,2	MCF-7	breast:
5	chr7:2899154..2902095-chr7:2911868..2915224,3	MCF-7	breast:
6	chr7:2897460..2900417-chr7:2901326..2905406,6	K562	blood:

Variant related genes	Relation type
ENSG00000174945	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113916405	chr7:2898991-2898992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564037288	chr7:2899027-2899028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370506246	chr7:2899038-2899039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147324305	chr7:2899040-2899041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529191886	chr7:2899049-2899050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369050731	chr7:2899050-2899051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74719345	chr7:2899057-2899058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs55930826	chr7:2899060-2899061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12113988	chr7:2899061-2899062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12113989	chr7:2899071-2899072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12113866	chr7:2899073-2899074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189196251	chr7:2899080-2899081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12113990	chr7:2899081-2899082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12113867	chr7:2899083-2899084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182233753	chr7:2899128-2899129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186415762	chr7:2899175-2899176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200403253	chr7:2899189-2899190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199751993	chr7:2899197-2899198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572831511	chr7:2899218-2899219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529275968	chr7:2899225-2899226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550909808	chr7:2899230-2899231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73033457	chr7:2899235-2899236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569020813	chr7:2899240-2899241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	21509527	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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2884600-2902800	Weak transcription	Right Ventricle	heart
2	chr7:2885000-2902000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:2891600-2902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:2891600-2902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:2891600-2902600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:2891600-2902800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:2892800-2902000	Weak transcription	NHLF	lung
8	chr7:2893200-2902000	Weak transcription	Ovary	ovary
9	chr7:2893400-2900200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:2893400-2902600	Weak transcription	GM12878-XiMat	blood
11	chr7:2895800-2902800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:2896600-2900200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:2897400-2902800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:2897600-2899000	Enhancers	HepG2	liver
15	chr7:2897600-2899400	Weak transcription	Pancreas	Pancrea
16	chr7:2897600-2900200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:2897600-2900200	Weak transcription	Fetal Intestine Small	intestine
18	chr7:2897600-2902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:2897600-2902200	Weak transcription	Placenta	Placenta
20	chr7:2898400-2899000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:2898400-2900400	Enhancers	Fetal Muscle Leg	muscle
22	chr7:2898800-2900000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:2898800-2902800	Weak transcription	HSMMtube	muscle
24	chr7:2898800-2903200	Weak transcription	Thymus	Thymus
25	chr7:2899000-2899400	Weak transcription	HepG2	liver

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