Variant report

Variant	nsv1022397
Chromosome Location	chr7:4485938-4543300
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:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

(count:3 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
VEGFA	miRNA target sites

Extended variants
information (count: 1340 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs314597	chr7:4485938-4485939	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560602968	chr7:4485950-4485951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529377169	chr7:4485957-4485958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543045690	chr7:4485969-4485970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562860754	chr7:4485995-4485996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552223418	chr7:4486010-4486011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551698495	chr7:4486061-4486062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571425924	chr7:4486062-4486063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527516791	chr7:4486064-4486065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547153252	chr7:4486083-4486084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570558665	chr7:4486162-4486163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376868520	chr7:4486176-4486177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189911232	chr7:4486191-4486192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535899444	chr7:4486203-4486204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549522877	chr7:4486210-4486211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569676278	chr7:4486239-4486240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191781087	chr7:4486263-4486264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558458442	chr7:4486267-4486268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375353177	chr7:4486278-4486279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535237181	chr7:4486306-4486307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578177045	chr7:4486316-4486317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199927608	chr7:4486317-4486318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141917758	chr7:4486323-4486324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183862889	chr7:4486344-4486345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370574958	chr7:4486353-4486354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367909978	chr7:4486359-4486360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543183722	chr7:4486363-4486364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539520233	chr7:4486378-4486379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115006341	chr7:4486397-4486398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188160075	chr7:4486409-4486410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28727427	chr7:4486429-4486430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565199963	chr7:4486446-4486447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181011559	chr7:4486447-4486448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547194318	chr7:4486462-4486463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150642616	chr7:4486463-4486464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544822750	chr7:4486465-4486466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185906999	chr7:4486468-4486469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10241924	chr7:4486490-4486491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569629927	chr7:4486525-4486526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538663898	chr7:4486527-4486528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190761590	chr7:4486542-4486543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551854411	chr7:4486557-4486558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28656034	chr7:4486568-4486569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10242060	chr7:4486573-4486574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373039174	chr7:4486575-4486576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35472785	chr7:4486576-4486577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398003476	chr7:4486597-4486598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368757562	chr7:4486612-4486613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112476813	chr7:4486651-4486652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554495790	chr7:4486706-4486707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4482200-4486000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:4485000-4488600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:4485000-4488600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:4485800-4491400	Weak transcription	Fetal Kidney	kidney
5	chr7:4488600-4489400	Enhancers	HepG2	liver
6	chr7:4488600-4489600	Enhancers	Fetal Intestine Large	intestine
7	chr7:4488600-4489600	Enhancers	Fetal Intestine Small	intestine
8	chr7:4489000-4489600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:4497200-4498000	Enhancers	Fetal Muscle Trunk	muscle
10	chr7:4497400-4498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:4497400-4498200	Enhancers	Adipose Nuclei	Adipose
12	chr7:4497400-4498600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:4497400-4498600	Enhancers	Fetal Muscle Leg	muscle
14	chr7:4497400-4498600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:4497400-4498800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:4497400-4498800	Enhancers	Ovary	ovary
17	chr7:4497600-4498200	Enhancers	Brain Germinal Matrix	brain
18	chr7:4497600-4498200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:4497600-4498400	Enhancers	Colon Smooth Muscle	Colon
20	chr7:4497600-4498400	Enhancers	Fetal Brain Male	brain
21	chr7:4497600-4498600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:4497800-4498200	Enhancers	Fetal Brain Female	brain
23	chr7:4498000-4498600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr7:4498200-4498600	Enhancers	Brain Hippocampus Middle	brain
25	chr7:4498600-4500200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:4498600-4500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:4499600-4499800	Enhancers	Aorta	Aorta
28	chr7:4499800-4500600	Enhancers	Fetal Intestine Large	intestine
29	chr7:4499800-4502600	Weak transcription	Aorta	Aorta
30	chr7:4500200-4500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:4500200-4500600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:4500200-4501200	Enhancers	Fetal Intestine Small	intestine
33	chr7:4500200-4502600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:4500800-4501400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:4501400-4501600	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:4501600-4501800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:4509000-4510000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr7:4509000-4510000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:4509200-4509600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:4509200-4509800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:4509400-4509800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:4509400-4510000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:4509600-4510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:4509600-4510000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:4509600-4510200	Enhancers	Aorta	Aorta
46	chr7:4509800-4513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:4510000-4511200	Enhancers	Brain Germinal Matrix	brain
48	chr7:4510000-4512200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:4510000-4512200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:4510000-4512400	Weak transcription	H9 Cell Line	embryonic stem cell

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