Variant report

Variant	nsv538699
Chromosome Location	chr7:4457298-4531875
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	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
2	chr17:57920568..57922934-chr7:4466757..4469576,2	MCF-7	breast:
3	chr15:101629167..101629860-chr7:4485245..4486227,2	MCF-7	breast:
4	chr7:4401235..4402088-chr7:4518606..4519411,2	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	chr7:4195210..4197944-chr7:4502921..4505536,2	MCF-7	breast:
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-5	chr7:4472597-4475543	NONHSAT118861
3	lnc-RADIL-4	chr7:4513174-4513309	NONHSAT118863
4	lnc-RADIL-4	chr7:4509330-4509430	NONHSAT118863
5	lnc-FOXK1-1	chr7:4473994-4474153	XLOC_005972
6	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: 2588 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2588 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182607294	chr7:4457298-4457299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542535205	chr7:4457358-4457359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71535112	chr7:4457362-4457363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376030423	chr7:4457363-4457364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186878159	chr7:4457378-4457379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535050131	chr7:4457380-4457381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555752058	chr7:4457399-4457400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199618236	chr7:4457401-4457402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536515173	chr7:4457403-4457404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564328125	chr7:4457422-4457423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183927734	chr7:4457509-4457510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373863989	chr7:4457511-4457512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188872494	chr7:4457524-4457525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560555979	chr7:4457546-4457547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529236748	chr7:4457547-4457548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34121949	chr7:4457579-4457580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199607155	chr7:4457581-4457582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11768909	chr7:4457582-4457583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10261465	chr7:4457585-4457586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73305561	chr7:4457603-4457604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562379425	chr7:4457609-4457610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551644685	chr7:4457626-4457627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571453109	chr7:4457692-4457693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10261581	chr7:4457707-4457708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs547489742	chr7:4457737-4457738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567272348	chr7:4457745-4457746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555653157	chr7:4457761-4457762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556118233	chr7:4457771-4457772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575887624	chr7:4457772-4457773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538131898	chr7:4457782-4457783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149793896	chr7:4457818-4457819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577786523	chr7:4457829-4457830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193081051	chr7:4457832-4457833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560343917	chr7:4457833-4457834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541771143	chr7:4457850-4457851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573982236	chr7:4457883-4457884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78910093	chr7:4457884-4457885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562893408	chr7:4457926-4457927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10261917	chr7:4457939-4457940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527445548	chr7:4457948-4457949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551681267	chr7:4457975-4457976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565099645	chr7:4457991-4457992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527450748	chr7:4457992-4457993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145723142	chr7:4458011-4458012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112764145	chr7:4458034-4458035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536332958	chr7:4458053-4458054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549544987	chr7:4458066-4458067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551971923	chr7:4458096-4458097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7803155	chr7:4458146-4458147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553417823	chr7:4458154-4458155	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4455000-4457600	Enhancers	Fetal Intestine Small	intestine
2	chr7:4456600-4460200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:4462400-4463800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:4463000-4463200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:4464800-4465000	Enhancers	Gastric	stomach
6	chr7:4464800-4465200	Enhancers	Brain Substantia Nigra	brain
7	chr7:4465000-4467600	Weak transcription	Gastric	stomach
8	chr7:4465600-4468600	Enhancers	Fetal Brain Male	brain
9	chr7:4471600-4472000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr7:4472000-4473600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:4473200-4474000	Enhancers	Fetal Muscle Trunk	muscle
12	chr7:4473600-4473800	Enhancers	Fetal Stomach	stomach
13	chr7:4473600-4474000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:4473600-4474200	Enhancers	Fetal Kidney	kidney
15	chr7:4473800-4474000	Flanking Active TSS	Fetal Stomach	stomach
16	chr7:4473800-4475200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr7:4474000-4474200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
18	chr7:4474000-4476600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:4474200-4474400	Active TSS	Fetal Stomach	stomach
20	chr7:4474200-4475200	Enhancers	Fetal Intestine Large	intestine
21	chr7:4474600-4478200	Enhancers	Fetal Intestine Small	intestine
22	chr7:4475000-4475200	Enhancers	Pancreas	Pancrea
23	chr7:4475000-4477400	Enhancers	Stomach Mucosa	stomach
24	chr7:4475200-4475400	Enhancers	A549	lung
25	chr7:4475200-4475600	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr7:4475400-4476600	Weak transcription	Pancreas	Pancrea
27	chr7:4475400-4476600	Weak transcription	A549	lung
28	chr7:4475600-4478200	Enhancers	Fetal Intestine Large	intestine
29	chr7:4475800-4477200	Bivalent Enhancer	HepG2	liver
30	chr7:4476600-4477200	Enhancers	Pancreas	Pancrea
31	chr7:4476600-4477400	Enhancers	A549	lung
32	chr7:4476800-4477200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:4476800-4477200	Enhancers	Gastric	stomach
34	chr7:4477000-4477400	Enhancers	Fetal Muscle Trunk	muscle
35	chr7:4477000-4478200	Enhancers	Fetal Muscle Leg	muscle
36	chr7:4478000-4479400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:4478200-4483400	Weak transcription	Fetal Intestine Small	intestine
38	chr7:4482200-4486000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr7:4483000-4483200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:4483400-4485000	Enhancers	Fetal Intestine Large	intestine
41	chr7:4483400-4485000	Enhancers	Fetal Intestine Small	intestine
42	chr7:4483600-4483800	Enhancers	Fetal Kidney	kidney
43	chr7:4483800-4485400	Weak transcription	Fetal Kidney	kidney
44	chr7:4485000-4488600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:4485000-4488600	Weak transcription	Fetal Intestine Small	intestine
46	chr7:4485400-4485800	ZNF genes & repeats	Fetal Kidney	kidney
47	chr7:4485600-4485800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:4485800-4491400	Weak transcription	Fetal Kidney	kidney
49	chr7:4488600-4489400	Enhancers	HepG2	liver
50	chr7:4488600-4489600	Enhancers	Fetal Intestine Large	intestine

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