Variant report

Variant	nsv877829
Chromosome Location	chr3:163678177-163719054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163689823..163692046-chr3:163703767..163706359,2	K562	blood:
2	chr3:163676571..163679360-chr3:163699055..163700602,2	MCF-7	breast:
3	chr3:163676571..163679360-chr3:163699055..163700602,2	MCF-7	breast:
4	chr3:163689823..163692046-chr3:163703767..163706359,2	K562	blood:

Extended variants
information (count: 307 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3903745	chr3:163678177-163678178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538063915	chr3:163678212-163678213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557990851	chr3:163678299-163678300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527813562	chr3:163678312-163678313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142873412	chr3:163678318-163678319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73166474	chr3:163678364-163678365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573591961	chr3:163678419-163678420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528212099	chr3:163678421-163678422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149574103	chr3:163678433-163678434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554981399	chr3:163678482-163678483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377228519	chr3:163678483-163678484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151083145	chr3:163678484-163678485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562467935	chr3:163678538-163678539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77259641	chr3:163678585-163678586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182208938	chr3:163678640-163678641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117520730	chr3:163678669-163678670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377625373	chr3:163678710-163678711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187245235	chr3:163678717-163678718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190328776	chr3:163678741-163678742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2365541	chr3:163678771-163678772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549421598	chr3:163678782-163678783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2365542	chr3:163678813-163678814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200769347	chr3:163678822-163678823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538004621	chr3:163678840-163678841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202178759	chr3:163678931-163678932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200268984	chr3:163678932-163678933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36097594	chr3:163678937-163678938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139900432	chr3:163678944-163678945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143886252	chr3:163678960-163678961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534208624	chr3:163679036-163679037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3908413	chr3:163679067-163679068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563742529	chr3:163679097-163679098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377712137	chr3:163679130-163679131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370354736	chr3:163679135-163679136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576200750	chr3:163679143-163679144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146886987	chr3:163679196-163679197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548293566	chr3:163679210-163679211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527509992	chr3:163679220-163679221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180948462	chr3:163679224-163679225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575631503	chr3:163679240-163679241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374313146	chr3:163679243-163679244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543156000	chr3:163679256-163679257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185073857	chr3:163679277-163679278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529245273	chr3:163679290-163679291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190273038	chr3:163679292-163679293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141995170	chr3:163679298-163679299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530262389	chr3:163679299-163679300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182401727	chr3:163679309-163679310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186778704	chr3:163679313-163679314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3031087	chr3:163679321-163679322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163671800-163684800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:163686000-163686400	Active TSS	Gastric	stomach
3	chr3:163686200-163686600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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