Variant report

Variant	nsv1030253
Chromosome Location	chr7:4482583-4548541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4143002..4143685-chr7:4518859..4519662,3	MCF-7	breast:
2	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
3	chr15:101629167..101629860-chr7:4485245..4486227,2	MCF-7	breast:
4	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
5	chr7:4195210..4197944-chr7:4502921..4505536,2	MCF-7	breast:
6	chr7:4541545..4543274-chr7:4543429..4546060,2	MCF-7	breast:
7	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
8	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
9	chr7:4541545..4543274-chr7:4543429..4546060,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXK1-1	chr7:4515791-4518319	XLOC_005972
2	lnc-RADIL-4	chr7:4509330-4509430	NONHSAT118863
3	lnc-RADIL-4	chr7:4513174-4513309	NONHSAT118863
4	lnc-SDK1-1	chr7:4482317-4482707	l_3355_chr7:4440443-4482707_testes

No data

Variant related genes	Relation type
VEGFA	miRNA target sites

Extended variants
information (count: 1650 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184638107	chr7:4482583-4482584	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs577088196	chr7:4482618-4482619	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs566369298	chr7:4482651-4482652	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190125350	chr7:4482722-4482723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77133162	chr7:4482735-4482736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80238497	chr7:4482737-4482738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76189969	chr7:4482739-4482740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80084392	chr7:4482740-4482741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539674964	chr7:4482773-4482774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538091918	chr7:4482827-4482828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557992221	chr7:4482856-4482857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577800866	chr7:4482865-4482866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533988080	chr7:4482875-4482876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10548855	chr7:4482882-4482883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553612614	chr7:4482884-4482885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6951056	chr7:4482916-4482917	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181336955	chr7:4482947-4482948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149971673	chr7:4482962-4482963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552558556	chr7:4482992-4482993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562112877	chr7:4483004-4483005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537228204	chr7:4483005-4483006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115399964	chr7:4483012-4483013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56108139	chr7:4483052-4483053	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143887266	chr7:4483060-4483061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533408459	chr7:4483068-4483069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547151946	chr7:4483075-4483076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13230055	chr7:4483076-4483077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141382747	chr7:4483087-4483088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6971916	chr7:4483090-4483091	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186344154	chr7:4483091-4483092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147430279	chr7:4483100-4483101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534880907	chr7:4483107-4483108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542258312	chr7:4483110-4483111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375017898	chr7:4483112-4483113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190796869	chr7:4483115-4483116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112179107	chr7:4483121-4483122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554094747	chr7:4483127-4483128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181018032	chr7:4483134-4483135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572651818	chr7:4483135-4483136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185054366	chr7:4483136-4483137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563433097	chr7:4483139-4483140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28711717	chr7:4483144-4483145	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191034005	chr7:4483147-4483148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555752277	chr7:4483151-4483152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183171519	chr7:4483152-4483153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113474028	chr7:4483153-4483154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544602535	chr7:4483155-4483156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564655642	chr7:4483158-4483159	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56118261	chr7:4483159-4483160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531819558	chr7:4483164-4483165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4478200-4483400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:4482200-4486000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:4483000-4483200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:4483400-4485000	Enhancers	Fetal Intestine Large	intestine
5	chr7:4483400-4485000	Enhancers	Fetal Intestine Small	intestine
6	chr7:4483600-4483800	Enhancers	Fetal Kidney	kidney
7	chr7:4483800-4485400	Weak transcription	Fetal Kidney	kidney
8	chr7:4485000-4488600	Weak transcription	Fetal Intestine Large	intestine
9	chr7:4485000-4488600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:4485400-4485800	ZNF genes & repeats	Fetal Kidney	kidney
11	chr7:4485600-4485800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:4485800-4491400	Weak transcription	Fetal Kidney	kidney
13	chr7:4488600-4489400	Enhancers	HepG2	liver
14	chr7:4488600-4489600	Enhancers	Fetal Intestine Large	intestine
15	chr7:4488600-4489600	Enhancers	Fetal Intestine Small	intestine
16	chr7:4489000-4489600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:4497200-4498000	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:4497400-4498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:4497400-4498200	Enhancers	Adipose Nuclei	Adipose
20	chr7:4497400-4498600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:4497400-4498600	Enhancers	Fetal Muscle Leg	muscle
22	chr7:4497400-4498600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:4497400-4498800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:4497400-4498800	Enhancers	Ovary	ovary
25	chr7:4497600-4498200	Enhancers	Brain Germinal Matrix	brain
26	chr7:4497600-4498200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:4497600-4498400	Enhancers	Colon Smooth Muscle	Colon
28	chr7:4497600-4498400	Enhancers	Fetal Brain Male	brain
29	chr7:4497600-4498600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:4497800-4498200	Enhancers	Fetal Brain Female	brain
31	chr7:4498000-4498600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
32	chr7:4498200-4498600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:4498600-4500200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:4498600-4500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:4499600-4499800	Enhancers	Aorta	Aorta
36	chr7:4499800-4500600	Enhancers	Fetal Intestine Large	intestine
37	chr7:4499800-4502600	Weak transcription	Aorta	Aorta
38	chr7:4500200-4500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:4500200-4500600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:4500200-4501200	Enhancers	Fetal Intestine Small	intestine
41	chr7:4500200-4502600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:4500800-4501400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr7:4501400-4501600	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:4501600-4501800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:4509000-4510000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:4509000-4510000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:4509200-4509600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:4509200-4509800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:4509400-4509800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:4509400-4510000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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