Variant report

Variant	nsv981820
Chromosome Location	chr7:117239985-117242827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146683624	chr7:117240060-117240061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564587592	chr7:117240082-117240083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139095524	chr7:117240123-117240124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79911188	chr7:117240175-117240176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569895556	chr7:117240257-117240258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531034837	chr7:117240276-117240277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549423679	chr7:117240323-117240324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551071368	chr7:117240329-117240330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530135674	chr7:117240333-117240334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35797246	chr7:117240373-117240374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567664744	chr7:117240388-117240389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534970579	chr7:117240515-117240516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553399758	chr7:117240530-117240531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571709236	chr7:117240577-117240578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538919294	chr7:117240596-117240597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553533509	chr7:117240659-117240660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183734377	chr7:117240663-117240664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2246450	chr7:117240668-117240669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371092352	chr7:117240685-117240686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542470479	chr7:117240715-117240716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149924409	chr7:117240721-117240722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145011044	chr7:117240765-117240766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553505918	chr7:117240786-117240787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564526529	chr7:117240788-117240789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532010553	chr7:117240865-117240866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370888638	chr7:117240882-117240883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545271009	chr7:117240892-117240893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188660387	chr7:117240904-117240905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531094903	chr7:117240917-117240918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549314906	chr7:117240922-117240923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192817136	chr7:117240923-117240924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528567266	chr7:117240993-117240994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375610324	chr7:117241019-117241020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2106155	chr7:117241031-117241032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557301528	chr7:117241212-117241213	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs34489981	chr7:117241383-117241384	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2213958	chr7:117241394-117241395	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575873533	chr7:117241415-117241416	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs377668680	chr7:117241454-117241455	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs185037191	chr7:117241458-117241459	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2518879	chr7:117241508-117241509	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566434989	chr7:117241534-117241535	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186995364	chr7:117241591-117241592	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs191424793	chr7:117241693-117241694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533622842	chr7:117241703-117241704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558254740	chr7:117241713-117241714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57115663	chr7:117241726-117241727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35358095	chr7:117241799-117241800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188051153	chr7:117241827-117241828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10276533	chr7:117241859-117241860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117233000-117245000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:117234600-117240400	Weak transcription	A549	lung
3	chr7:117236200-117243400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:117236200-117244800	Weak transcription	Pancreas	Pancrea
5	chr7:117236200-117245600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:117236600-117245600	Weak transcription	Colonic Mucosa	Colon
7	chr7:117236800-117244800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:117237600-117245000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:117238200-117242000	Weak transcription	Fetal Intestine Small	intestine
10	chr7:117238200-117243600	Weak transcription	Fetal Thymus	thymus
11	chr7:117238200-117243600	Weak transcription	Dnd41	blood
12	chr7:117239800-117240000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:117240000-117241200	Enhancers	HUVEC	blood vessel
14	chr7:117240400-117240600	Enhancers	A549	lung
15	chr7:117240600-117244800	Weak transcription	A549	lung
16	chr7:117241200-117241600	Flanking Active TSS	HUVEC	blood vessel
17	chr7:117241600-117242200	Enhancers	HUVEC	blood vessel
18	chr7:117242000-117242200	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:117242000-117242400	Genic enhancers	Fetal Intestine Small	intestine
20	chr7:117242400-117244800	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links