Variant report

Variant	nsv538700
Chromosome Location	chr7:4459693-4531875
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:6)
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	chr17:57920568..57922934-chr7:4466757..4469576,2	MCF-7	breast:
2	chr7:4195210..4197944-chr7:4502921..4505536,2	MCF-7	breast:
3	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
4	chr15:101629167..101629860-chr7:4485245..4486227,2	MCF-7	breast:
5	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
6	chr7:4143002..4143685-chr7:4518859..4519662,3	MCF-7	breast:
7	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
8	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:

(count:6 , 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-FOXK1-1	chr7:4473994-4474153	XLOC_005972
4	lnc-SDK1-1	chr7:4482317-4482707	l_3355_chr7:4440443-4482707_testes
5	lnc-RADIL-5	chr7:4472597-4475543	NONHSAT118861
6	lnc-RADIL-4	chr7:4513174-4513309	NONHSAT118863

No data

Variant related genes	Relation type
VEGFA	miRNA target sites

Extended variants
information (count: 2456 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2456 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111636996	chr7:4459695-4459696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558946684	chr7:4459706-4459707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528056663	chr7:4459717-4459718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572033464	chr7:4459718-4459719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190805535	chr7:4459729-4459730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561583966	chr7:4459737-4459738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182043799	chr7:4459742-4459743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373803751	chr7:4459810-4459811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530328333	chr7:4459817-4459818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186212744	chr7:4459873-4459874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570239033	chr7:4459892-4459893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539155944	chr7:4459913-4459914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552668182	chr7:4459951-4459952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565948275	chr7:4459955-4459956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534970242	chr7:4459965-4459966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373610995	chr7:4459998-4459999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60634172	chr7:4460001-4460002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190536767	chr7:4460002-4460003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556766188	chr7:4460029-4460030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576600773	chr7:4460056-4460057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545510847	chr7:4460072-4460073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558985742	chr7:4460080-4460081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532634123	chr7:4460087-4460088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572755441	chr7:4460129-4460130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147127084	chr7:4460152-4460153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561521022	chr7:4460155-4460156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530449041	chr7:4460157-4460158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544331112	chr7:4460180-4460181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555572077	chr7:4462403-4462404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111981033	chr7:4462431-4462432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544305445	chr7:4462449-4462450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149847929	chr7:4462472-4462473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112521415	chr7:4462478-4462479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369089916	chr7:4462479-4462480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs7807912	chr7:4462482-4462483	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs929347	chr7:4462496-4462497	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs58981239	chr7:4462512-4462513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs13232858	chr7:4462595-4462596	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs550447907	chr7:4462621-4462622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551509943	chr7:4462670-4462671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111376620	chr7:4462671-4462672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527375154	chr7:4462676-4462677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113297450	chr7:4462698-4462699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576114263	chr7:4462716-4462717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs6462821	chr7:4462717-4462718	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10237068	chr7:4462735-4462736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555596556	chr7:4462751-4462752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371664213	chr7:4462764-4462765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs533877190	chr7:4462786-4462787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375018956	chr7:4462796-4462797	ZNF genes & repeats	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4456600-4460200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:4462400-4463800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4463000-4463200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:4464800-4465000	Enhancers	Gastric	stomach
5	chr7:4464800-4465200	Enhancers	Brain Substantia Nigra	brain
6	chr7:4465000-4467600	Weak transcription	Gastric	stomach
7	chr7:4465600-4468600	Enhancers	Fetal Brain Male	brain
8	chr7:4471600-4472000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr7:4472000-4473600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:4473200-4474000	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:4473600-4473800	Enhancers	Fetal Stomach	stomach
12	chr7:4473600-4474000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:4473600-4474200	Enhancers	Fetal Kidney	kidney
14	chr7:4473800-4474000	Flanking Active TSS	Fetal Stomach	stomach
15	chr7:4473800-4475200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr7:4474000-4474200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr7:4474000-4476600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:4474200-4474400	Active TSS	Fetal Stomach	stomach
19	chr7:4474200-4475200	Enhancers	Fetal Intestine Large	intestine
20	chr7:4474600-4478200	Enhancers	Fetal Intestine Small	intestine
21	chr7:4475000-4475200	Enhancers	Pancreas	Pancrea
22	chr7:4475000-4477400	Enhancers	Stomach Mucosa	stomach
23	chr7:4475200-4475400	Enhancers	A549	lung
24	chr7:4475200-4475600	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr7:4475400-4476600	Weak transcription	Pancreas	Pancrea
26	chr7:4475400-4476600	Weak transcription	A549	lung
27	chr7:4475600-4478200	Enhancers	Fetal Intestine Large	intestine
28	chr7:4475800-4477200	Bivalent Enhancer	HepG2	liver
29	chr7:4476600-4477200	Enhancers	Pancreas	Pancrea
30	chr7:4476600-4477400	Enhancers	A549	lung
31	chr7:4476800-4477200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:4476800-4477200	Enhancers	Gastric	stomach
33	chr7:4477000-4477400	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:4477000-4478200	Enhancers	Fetal Muscle Leg	muscle
35	chr7:4478000-4479400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:4478200-4483400	Weak transcription	Fetal Intestine Small	intestine
37	chr7:4482200-4486000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr7:4483000-4483200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:4483400-4485000	Enhancers	Fetal Intestine Large	intestine
40	chr7:4483400-4485000	Enhancers	Fetal Intestine Small	intestine
41	chr7:4483600-4483800	Enhancers	Fetal Kidney	kidney
42	chr7:4483800-4485400	Weak transcription	Fetal Kidney	kidney
43	chr7:4485000-4488600	Weak transcription	Fetal Intestine Large	intestine
44	chr7:4485000-4488600	Weak transcription	Fetal Intestine Small	intestine
45	chr7:4485400-4485800	ZNF genes & repeats	Fetal Kidney	kidney
46	chr7:4485600-4485800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:4485800-4491400	Weak transcription	Fetal Kidney	kidney
48	chr7:4488600-4489400	Enhancers	HepG2	liver
49	chr7:4488600-4489600	Enhancers	Fetal Intestine Large	intestine
50	chr7:4488600-4489600	Enhancers	Fetal Intestine Small	intestine

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