Variant report

Variant	nsv967082
Chromosome Location	chr3:161046734-161048222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160937993..160941056-chr3:161047965..161051023,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTSSB-2	chr3:161046712-161048026	NONHSAT093014

Variant related genes	Relation type
ENSG00000271052	chromatin interactions
ENSG00000169251	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73162538	chr3:161046783-161046784	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs540286484	chr3:161046800-161046801	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560487245	chr3:161046817-161046818	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs562206935	chr3:161046842-161046843	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs78376802	chr3:161046846-161046847	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs549492750	chr3:161046847-161046848	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs547773090	chr3:161046861-161046862	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs181387368	chr3:161046893-161046894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs559460121	chr3:161046969-161046970	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs12634781	chr3:161046975-161046976	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533697022	chr3:161046982-161046983	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs571868562	chr3:161046994-161046995	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs534470370	chr3:161046999-161047000	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs116736236	chr3:161047044-161047045	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs566128561	chr3:161047045-161047046	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs535213843	chr3:161047049-161047050	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs555053348	chr3:161047062-161047063	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs546486371	chr3:161047090-161047091	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546217437	chr3:161047099-161047100	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs574948542	chr3:161047141-161047142	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs537668870	chr3:161047184-161047185	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs7638668	chr3:161047283-161047284	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577896849	chr3:161047321-161047322	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs540502009	chr3:161047341-161047342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs560514577	chr3:161047350-161047351	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574071104	chr3:161047351-161047352	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs543000960	chr3:161047355-161047356	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs73162542	chr3:161047375-161047376	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs151105088	chr3:161047381-161047382	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs377193097	chr3:161047388-161047389	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs565460410	chr3:161047399-161047400	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs190154440	chr3:161047417-161047418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs34697695	chr3:161047420-161047421	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs547675100	chr3:161047450-161047451	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs141044358	chr3:161047456-161047457	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs537246742	chr3:161047463-161047464	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs1993891	chr3:161047467-161047468	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs568628737	chr3:161047478-161047479	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs150237314	chr3:161047481-161047482	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs182232654	chr3:161047542-161047543	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs577761820	chr3:161047565-161047566	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs186453088	chr3:161047578-161047579	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs115806772	chr3:161047583-161047584	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573932859	chr3:161047691-161047692	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs189747510	chr3:161047700-161047701	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs4856703	chr3:161047720-161047721	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs576494719	chr3:161047723-161047724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs545463115	chr3:161047817-161047818	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs552952968	chr3:161047835-161047836	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs565379992	chr3:161047966-161047967	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
abnormal development	18461090	CNVD
Prostate cancer	18632612	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
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161043800-161048200	Weak transcription	HepG2	liver
2	chr3:161048200-161051800	Enhancers	HepG2	liver

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