Variant report

Variant	nsv818487
Chromosome Location	chr7:16025340-16027998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13234986	chr7:16025340-16025341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561132515	chr7:16025342-16025343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539567332	chr7:16025365-16025366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576638787	chr7:16025370-16025371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112889833	chr7:16025387-16025388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377766903	chr7:16025397-16025398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79742049	chr7:16025415-16025416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77350479	chr7:16025416-16025417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141442556	chr7:16025429-16025430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187479977	chr7:16025453-16025454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28503776	chr7:16025455-16025456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370232566	chr7:16025459-16025460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546260444	chr7:16025464-16025465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527403545	chr7:16025499-16025500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28537492	chr7:16025513-16025514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575128735	chr7:16025514-16025515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567158586	chr7:16025540-16025541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537886729	chr7:16025566-16025567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566785870	chr7:16025598-16025599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150879855	chr7:16025601-16025602	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537736821	chr7:16025661-16025662	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561259954	chr7:16025679-16025680	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs28441374	chr7:16025692-16025693	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538803572	chr7:16025694-16025695	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554032141	chr7:16025715-16025716	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572525095	chr7:16025717-16025718	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574645594	chr7:16025750-16025751	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191985904	chr7:16025757-16025758	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184534180	chr7:16025784-16025785	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187772749	chr7:16025806-16025807	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77094939	chr7:16025868-16025869	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559917526	chr7:16025924-16025925	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543828726	chr7:16025937-16025938	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565221490	chr7:16025938-16025939	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs370406189	chr7:16025946-16025947	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114369761	chr7:16025959-16025960	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576993172	chr7:16025963-16025964	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs193116954	chr7:16026002-16026003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542347792	chr7:16026004-16026005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561083003	chr7:16026032-16026033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531194499	chr7:16026084-16026085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549765936	chr7:16026089-16026090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571538652	chr7:16026149-16026150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532450864	chr7:16026188-16026189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138447820	chr7:16026217-16026218	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201063683	chr7:16026264-16026265	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565874550	chr7:16026285-16026286	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536495788	chr7:16026288-16026289	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184421848	chr7:16026300-16026301	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570164578	chr7:16026312-16026313	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16024400-16026600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:16024400-16027000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:16024600-16025800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:16024600-16026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:16024600-16027000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:16024800-16025600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:16024800-16027000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:16024800-16027200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:16025400-16025600	Enhancers	NHDF-Ad	bronchial
10	chr7:16025600-16026000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:16025600-16026000	Enhancers	Fetal Brain Male	brain
12	chr7:16025600-16026000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr7:16026000-16026200	Enhancers	NHDF-Ad	bronchial
14	chr7:16026200-16026400	Flanking Active TSS	NHDF-Ad	bronchial
15	chr7:16027000-16027400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:16027400-16027800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:16027400-16029200	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links