Variant report

Variant	nsv1028250
Chromosome Location	chr7:4477035-4515957
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:4195210..4197944-chr7:4502921..4505536,2	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	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:

(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-SDK1-1	chr7:4482317-4482707	l_3355_chr7:4440443-4482707_testes
3	lnc-RADIL-4	chr7:4509330-4509430	NONHSAT118863
4	lnc-RADIL-4	chr7:4513174-4513309	NONHSAT118863

No data

Variant related genes	Relation type
VEGFA	miRNA target sites

Extended variants
information (count: 1596 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1596 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111582916	chr7:4477079-4477080	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs115450080	chr7:4477095-4477096	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs376543913	chr7:4477100-4477101	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs314581	chr7:4477120-4477121	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111956748	chr7:4477168-4477169	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189073927	chr7:4477191-4477192	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs547186737	chr7:4477197-4477198	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs575633517	chr7:4477225-4477226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141634882	chr7:4477229-4477230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71527498	chr7:4477238-4477239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549251421	chr7:4477261-4477262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569370950	chr7:4477291-4477292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57825937	chr7:4477324-4477325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76711924	chr7:4477338-4477339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571582571	chr7:4477383-4477384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534053380	chr7:4477408-4477409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546244786	chr7:4477480-4477481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553938754	chr7:4477485-4477486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573716101	chr7:4477500-4477501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542795436	chr7:4477538-4477539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2034313	chr7:4477587-4477588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112651056	chr7:4477590-4477591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544637057	chr7:4477594-4477595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558091653	chr7:4477658-4477659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12536025	chr7:4477668-4477669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577937027	chr7:4477684-4477685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540523108	chr7:4477709-4477710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560747146	chr7:4477713-4477714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529510844	chr7:4477717-4477718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139640361	chr7:4477743-4477744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554275165	chr7:4477745-4477746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181741773	chr7:4477764-4477765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531806461	chr7:4477767-4477768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149739854	chr7:4477780-4477781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147413853	chr7:4477783-4477784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186057197	chr7:4477854-4477855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373883771	chr7:4477882-4477883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139653632	chr7:4477883-4477884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567544858	chr7:4477951-4477952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536083877	chr7:4477968-4477969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569589548	chr7:4477980-4477981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2034312	chr7:4477992-4477993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs573340628	chr7:4478062-4478063	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540536218	chr7:4478109-4478110	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78483462	chr7:4478164-4478165	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536408219	chr7:4478189-4478190	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571665603	chr7:4478193-4478194	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541019081	chr7:4478196-4478197	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560649936	chr7:4478199-4478200	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574261553	chr7:4478279-4478280	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4474600-4478200	Enhancers	Fetal Intestine Small	intestine
2	chr7:4475000-4477400	Enhancers	Stomach Mucosa	stomach
3	chr7:4475600-4478200	Enhancers	Fetal Intestine Large	intestine
4	chr7:4475800-4477200	Bivalent Enhancer	HepG2	liver
5	chr7:4476600-4477200	Enhancers	Pancreas	Pancrea
6	chr7:4476600-4477400	Enhancers	A549	lung
7	chr7:4476800-4477200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:4476800-4477200	Enhancers	Gastric	stomach
9	chr7:4477000-4477400	Enhancers	Fetal Muscle Trunk	muscle
10	chr7:4477000-4478200	Enhancers	Fetal Muscle Leg	muscle
11	chr7:4478000-4479400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:4478200-4483400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:4482200-4486000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr7:4483000-4483200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:4483400-4485000	Enhancers	Fetal Intestine Large	intestine
16	chr7:4483400-4485000	Enhancers	Fetal Intestine Small	intestine
17	chr7:4483600-4483800	Enhancers	Fetal Kidney	kidney
18	chr7:4483800-4485400	Weak transcription	Fetal Kidney	kidney
19	chr7:4485000-4488600	Weak transcription	Fetal Intestine Large	intestine
20	chr7:4485000-4488600	Weak transcription	Fetal Intestine Small	intestine
21	chr7:4485400-4485800	ZNF genes & repeats	Fetal Kidney	kidney
22	chr7:4485600-4485800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:4485800-4491400	Weak transcription	Fetal Kidney	kidney
24	chr7:4488600-4489400	Enhancers	HepG2	liver
25	chr7:4488600-4489600	Enhancers	Fetal Intestine Large	intestine
26	chr7:4488600-4489600	Enhancers	Fetal Intestine Small	intestine
27	chr7:4489000-4489600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:4497200-4498000	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:4497400-4498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:4497400-4498200	Enhancers	Adipose Nuclei	Adipose
31	chr7:4497400-4498600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:4497400-4498600	Enhancers	Fetal Muscle Leg	muscle
33	chr7:4497400-4498600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:4497400-4498800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:4497400-4498800	Enhancers	Ovary	ovary
36	chr7:4497600-4498200	Enhancers	Brain Germinal Matrix	brain
37	chr7:4497600-4498200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:4497600-4498400	Enhancers	Colon Smooth Muscle	Colon
39	chr7:4497600-4498400	Enhancers	Fetal Brain Male	brain
40	chr7:4497600-4498600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:4497800-4498200	Enhancers	Fetal Brain Female	brain
42	chr7:4498000-4498600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:4498200-4498600	Enhancers	Brain Hippocampus Middle	brain
44	chr7:4498600-4500200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:4498600-4500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:4499600-4499800	Enhancers	Aorta	Aorta
47	chr7:4499800-4500600	Enhancers	Fetal Intestine Large	intestine
48	chr7:4499800-4502600	Weak transcription	Aorta	Aorta
49	chr7:4500200-4500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:4500200-4500600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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