Variant report

Variant	esv2753823
Chromosome Location	chr7:25626156-25655093
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:25649000..25651876-chr7:25686289..25688697,2	MCF-7	breast:
2	chr7:25634954..25637088-chr7:25637299..25639062,2	MCF-7	breast:
3	chr7:25631774..25634150-chr7:25636240..25639148,2	K562	blood:
4	chr7:25631774..25634150-chr7:25636240..25639148,2	K562	blood:
5	chr7:25634954..25637088-chr7:25637299..25639062,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPVF-5	chr7:25634153-25634336	ENSG00000223561.2
2	lnc-NPVF-5	chr7:25632971-25634336	ENSG00000223561.2

No data

Extended variants
information (count: 705 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10951079	chr7:25626156-25626157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574848430	chr7:25626163-25626164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs208557	chr7:25626189-25626190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548497157	chr7:25626192-25626193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567930921	chr7:25626206-25626207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530447437	chr7:25626211-25626212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550215064	chr7:25626270-25626271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189770085	chr7:25626289-25626290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560257051	chr7:25626293-25626294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539191599	chr7:25626304-25626305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552494904	chr7:25626320-25626321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144763452	chr7:25626329-25626330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534992924	chr7:25626350-25626351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541436877	chr7:25626394-25626395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146765376	chr7:25626408-25626409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140425895	chr7:25626415-25626416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143583634	chr7:25626418-25626419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147983365	chr7:25626425-25626426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370610169	chr7:25626429-25626430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538498915	chr7:25626438-25626439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116878974	chr7:25626439-25626440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111331542	chr7:25626508-25626509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367733974	chr7:25626523-25626524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs882101	chr7:25626542-25626543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371187778	chr7:25626561-25626562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573571771	chr7:25628604-25628605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542714846	chr7:25628650-25628651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562573117	chr7:25628669-25628670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531087441	chr7:25628680-25628681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377283528	chr7:25628686-25628687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576375232	chr7:25628694-25628695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191218853	chr7:25628760-25628761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533655596	chr7:25628783-25628784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547014770	chr7:25628787-25628788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28434092	chr7:25628831-25628832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560507455	chr7:25628832-25628833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529294711	chr7:25628834-25628835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2074137	chr7:25628839-25628840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs17151982	chr7:25628954-25628955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527291023	chr7:25628957-25628958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35954487	chr7:25628980-25628981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375208770	chr7:25631662-25631663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116394776	chr7:25631665-25631666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146946593	chr7:25631705-25631706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572305592	chr7:25631706-25631707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576824816	chr7:25631712-25631713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535027291	chr7:25631792-25631793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17464623	chr7:25631794-25631795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574985441	chr7:25631868-25631869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138480225	chr7:25631870-25631871	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25626000-25626600	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:25628600-25629000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr7:25631600-25634800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:25633800-25634200	Enhancers	Fetal Intestine Small	intestine
5	chr7:25634200-25634400	Enhancers	Fetal Intestine Large	intestine
6	chr7:25634200-25635800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:25634400-25635600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:25634800-25635000	Enhancers	Fetal Muscle Leg	muscle
9	chr7:25634800-25635000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:25635000-25636200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:25635000-25638800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:25635600-25636400	Enhancers	Fetal Intestine Large	intestine
13	chr7:25635600-25636400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:25635800-25636400	Enhancers	Fetal Intestine Small	intestine
15	chr7:25635800-25636400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:25636000-25637200	Enhancers	Liver	Liver
17	chr7:25636200-25636400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:25636200-25636400	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:25636200-25636600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:25636400-25637000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:25636400-25640600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:25636400-25642200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:25636400-25642600	Weak transcription	Fetal Intestine Large	intestine
24	chr7:25636600-25636800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:25636600-25642600	Weak transcription	Fetal Stomach	stomach
26	chr7:25636800-25637200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:25636800-25637200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:25637000-25637800	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:25637000-25638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:25637200-25637400	Enhancers	Aorta	Aorta
31	chr7:25637200-25637400	Enhancers	Pancreas	Pancrea
32	chr7:25637200-25637600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:25637200-25637600	Flanking Active TSS	Liver	Liver
34	chr7:25637200-25637800	Enhancers	Lung	lung
35	chr7:25637200-25638000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:25637200-25638000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:25637400-25637800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:25637400-25638400	Weak transcription	Pancreas	Pancrea
39	chr7:25637400-25638600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:25637400-25642800	Weak transcription	Aorta	Aorta
41	chr7:25637600-25638000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:25637600-25638000	Enhancers	Adipose Nuclei	Adipose
43	chr7:25637600-25638400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:25637600-25638400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:25637600-25638600	Enhancers	Small Intestine	intestine
46	chr7:25637600-25638800	Enhancers	Liver	Liver
47	chr7:25638400-25638600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:25638400-25638800	Enhancers	Left Ventricle	heart
49	chr7:25638400-25638800	Enhancers	Pancreas	Pancrea
50	chr7:25638600-25638800	Enhancers	Psoas Muscle	Psoas

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