Variant report

Variant	nsv887724
Chromosome Location	chr7:15236392-15308585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:15253710..15255246-chr7:15258463..15260182,2	K562	blood:
2	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
3	chr7:15238978..15239740-chr7:16110589..16111290,3	K562	blood:
4	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
5	chr7:15253710..15255246-chr7:15258463..15260182,2	K562	blood:

Extended variants
information (count: 2637 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2637 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10274730	chr7:15236392-15236393	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555030355	chr7:15236411-15236412	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116734184	chr7:15236412-15236413	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs58037013	chr7:15236414-15236415	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560191845	chr7:15236437-15236438	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532408541	chr7:15236441-15236442	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545696106	chr7:15236464-15236465	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs377362783	chr7:15236475-15236476	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562688588	chr7:15236503-15236504	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531336055	chr7:15236524-15236525	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547879511	chr7:15236549-15236550	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567761626	chr7:15236558-15236559	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10275148	chr7:15236587-15236588	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145186070	chr7:15236610-15236611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368615034	chr7:15236622-15236623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546967403	chr7:15236639-15236640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560265459	chr7:15236640-15236641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10275070	chr7:15236667-15236668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10717756	chr7:15236669-15236670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184099074	chr7:15236683-15236684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569451812	chr7:15236696-15236697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367932159	chr7:15236710-15236711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538387586	chr7:15236712-15236713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs66643588	chr7:15236719-15236720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116462331	chr7:15236792-15236793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552392058	chr7:15236793-15236794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540655077	chr7:15236819-15236820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554102687	chr7:15236884-15236885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577098211	chr7:15236918-15236919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546059236	chr7:15236936-15236937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187496737	chr7:15236952-15236953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74572324	chr7:15237044-15237045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541586349	chr7:15237070-15237071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537258650	chr7:15237080-15237081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374217455	chr7:15237105-15237106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561448499	chr7:15237145-15237146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527355672	chr7:15237172-15237173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114372536	chr7:15237191-15237192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374081424	chr7:15237203-15237204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533136115	chr7:15237244-15237245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139007998	chr7:15237259-15237260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73275391	chr7:15237271-15237272	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552832734	chr7:15237294-15237295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77967209	chr7:15237331-15237332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370956553	chr7:15237353-15237354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192754843	chr7:15237378-15237379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548772250	chr7:15237402-15237403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568586002	chr7:15237418-15237419	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550210768	chr7:15237457-15237458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573981537	chr7:15237473-15237474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15235000-15237200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:15236000-15236400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:15236200-15236800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:15236200-15238600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:15236200-15238600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:15236400-15236600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:15236400-15237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:15236600-15237200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:15236600-15237200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:15236600-15238800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:15236800-15237200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:15236800-15238000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:15237000-15237400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr7:15237200-15238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:15237200-15238200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:15237200-15238400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:15237200-15238800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:15237200-15239000	Enhancers	NHDF-Ad	bronchial
19	chr7:15237200-15241000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:15237400-15238400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:15237400-15239200	Enhancers	Osteobl	bone
22	chr7:15237800-15238200	Enhancers	Hela-S3	cervix
23	chr7:15237800-15238600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:15237800-15238600	Enhancers	Brain Substantia Nigra	brain
25	chr7:15237800-15238600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:15237800-15238800	Enhancers	Brain Hippocampus Middle	brain
27	chr7:15237800-15239400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:15238000-15238600	Enhancers	Fetal Muscle Leg	muscle
29	chr7:15238000-15238800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:15238000-15238800	Enhancers	NH-A	brain
31	chr7:15238000-15239000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:15238000-15239000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:15238000-15239000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:15238200-15238400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:15238200-15238600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:15238200-15238800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:15238200-15238800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:15238400-15239000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:15238400-15239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:15238400-15239000	Enhancers	NHEK	skin
41	chr7:15238400-15239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:15238400-15239400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:15238600-15239400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:15238800-15249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:15239000-15244200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:15239400-15241400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:15241000-15241400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:15241400-15241800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:15244000-15244200	Active TSS	Fetal Lung	lung
50	chr7:15244200-15244400	Flanking Active TSS	Fetal Lung	lung

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