Variant report

Variant	esv1799041
Chromosome Location	chr7:14253924-14265179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 480 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17764625	chr7:14253924-14253925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370792263	chr7:14253948-14253949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374434205	chr7:14253949-14253950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565732189	chr7:14253951-14253952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188203466	chr7:14253991-14253992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3067642	chr7:14254015-14254016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397838078	chr7:14254019-14254020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534440364	chr7:14254023-14254024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374367824	chr7:14254044-14254045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567853249	chr7:14254057-14254058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143506415	chr7:14254061-14254062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539734481	chr7:14254064-14254065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192654905	chr7:14254065-14254066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75344894	chr7:14254120-14254121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542166154	chr7:14254133-14254134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547193612	chr7:14254142-14254143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567042407	chr7:14254240-14254241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572475874	chr7:14254250-14254251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541565658	chr7:14254274-14254275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372244144	chr7:14254287-14254288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534717104	chr7:14254355-14254356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557840698	chr7:14254367-14254368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185542100	chr7:14254392-14254393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577614950	chr7:14254393-14254394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536634737	chr7:14254396-14254397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190441435	chr7:14254411-14254412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543740664	chr7:14254416-14254417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370238484	chr7:14254434-14254435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563530080	chr7:14254475-14254476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529185145	chr7:14254489-14254490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576323032	chr7:14254519-14254520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181748266	chr7:14254546-14254547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186829883	chr7:14254591-14254592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528171612	chr7:14254619-14254620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551098808	chr7:14254633-14254634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145835449	chr7:14254649-14254650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539597703	chr7:14254655-14254656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375250702	chr7:14254670-14254671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115165328	chr7:14254689-14254690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570295248	chr7:14254716-14254717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116955084	chr7:14254720-14254721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17167969	chr7:14254734-14254735	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542487888	chr7:14254736-14254737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535114358	chr7:14254766-14254767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558333303	chr7:14254776-14254777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79176882	chr7:14254785-14254786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17708126	chr7:14254864-14254865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs10261339	chr7:14254894-14254895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573856487	chr7:14254900-14254901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35877752	chr7:14254923-14254924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
2	chr7:14250800-14254600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:14254600-14255000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:14255600-14255800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:14255800-14256600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:14256600-14256800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:14256800-14257600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:14257400-14259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:14257600-14258600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:14257600-14258600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:14257600-14258600	Enhancers	HSMM	muscle
12	chr7:14257800-14258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:14258000-14259400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:14258000-14259400	Enhancers	Fetal Intestine Large	intestine
15	chr7:14258200-14259200	Enhancers	Liver	Liver
16	chr7:14258200-14259200	Enhancers	Fetal Intestine Small	intestine
17	chr7:14258400-14258800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:14258600-14259200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:14258600-14264400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:14259000-14259400	Enhancers	Fetal Heart	heart
21	chr7:14259200-14259800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:14264000-14264400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:14264200-14264800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:14264400-14264600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:14264400-14264800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:14264400-14264800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:14264600-14264800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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