Variant report

Variant	nsv516634
Chromosome Location	chr3:180171589-180184614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC14-2	chr3:180175444-180175507	NONHSAT093431
2	lnc-TTC14-2	chr3:180175445-180175507	XLOC_002937

Extended variants
information (count: 557 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9823620	chr3:180171589-180171590	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564596151	chr3:180171658-180171659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548772797	chr3:180171659-180171660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193243143	chr3:180171671-180171672	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535464237	chr3:180171672-180171673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534796809	chr3:180171721-180171722	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557604814	chr3:180171725-180171726	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149263987	chr3:180171726-180171727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76898373	chr3:180171735-180171736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16831590	chr3:180171775-180171776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535993889	chr3:180171781-180171782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139496932	chr3:180171820-180171821	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553106416	chr3:180171827-180171828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs207464124	chr3:180171862-180171863	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1497893	chr3:180171924-180171925	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1497892	chr3:180171953-180171954	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572706056	chr3:180172044-180172045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541597138	chr3:180172068-180172069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113148692	chr3:180172118-180172119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369645458	chr3:180172184-180172185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376007255	chr3:180172232-180172233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185285708	chr3:180172238-180172239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113336291	chr3:180172297-180172298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543453870	chr3:180172315-180172316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563301080	chr3:180172386-180172387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529239854	chr3:180172431-180172432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145023465	chr3:180172438-180172439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565625309	chr3:180172445-180172446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115481421	chr3:180172469-180172470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13061297	chr3:180172537-180172538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377021574	chr3:180172560-180172561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558894059	chr3:180172567-180172568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200046005	chr3:180172659-180172660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537109132	chr3:180172669-180172670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369140906	chr3:180172688-180172689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181419917	chr3:180172699-180172700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536230290	chr3:180172700-180172701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73043708	chr3:180172702-180172703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572664427	chr3:180172714-180172715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534928810	chr3:180172753-180172754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185561261	chr3:180172755-180172756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578039284	chr3:180172776-180172777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543934787	chr3:180172893-180172894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548575525	chr3:180172896-180172897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563436851	chr3:180172910-180172911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573734688	chr3:180172973-180172974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542580720	chr3:180172975-180172976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559247140	chr3:180172997-180172998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528341344	chr3:180173021-180173022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551296500	chr3:180173040-180173041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180166400-180174800	Weak transcription	HMEC	breast
2	chr3:180171400-180172000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:180172000-180175000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:180174800-180176000	Enhancers	HMEC	breast
5	chr3:180175000-180176000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:180175000-180176400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:180175200-180176000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:180176000-180184600	Weak transcription	HMEC	breast
9	chr3:180176000-180187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:180176400-180178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:180178000-180178800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:180178800-180182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:180182200-180183400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:180183400-180183800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:180183800-180186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:180184600-180185400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:180184600-180186000	Enhancers	HMEC	breast

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