Variant report

Variant	nsv961934
Chromosome Location	chr2:231175468-231176781
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	chr2:231176097..231178034-chr2:231181270..231184101,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP140L-1	chr2:231175458-231175566	NONHSAT077277
2	lnc-SP110-4	chr2:231174307-231176000	NONHSAT077276
3	lnc-SP140L-1	chr2:231175869-231176238	NONHSAT077277

Extended variants
information (count: 52 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371937120	chr2:231175499-231175500	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs62192163	chr2:231175549-231175550	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs555092920	chr2:231175577-231175578	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573231692	chr2:231175579-231175580	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533963773	chr2:231175615-231175616	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs558487113	chr2:231175618-231175619	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs577142533	chr2:231175629-231175630	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs544459118	chr2:231175636-231175637	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs377093921	chr2:231175660-231175661	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs562952349	chr2:231175671-231175672	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs575020961	chr2:231175720-231175721	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs112512464	chr2:231175723-231175724	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs542054946	chr2:231175761-231175762	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs66642167	chr2:231175763-231175764	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192345800	chr2:231175784-231175785	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs148480087	chr2:231175795-231175796	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs145316306	chr2:231175796-231175797	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs545831658	chr2:231175813-231175814	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs368697917	chr2:231175819-231175820	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs564023168	chr2:231175834-231175835	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200628836	chr2:231175916-231175917	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs531645900	chr2:231175978-231175979	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs139570354	chr2:231176040-231176041	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs550138621	chr2:231176053-231176054	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs568261031	chr2:231176054-231176055	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs183455734	chr2:231176059-231176060	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs547256613	chr2:231176063-231176064	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs201588897	chr2:231176155-231176156	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199837567	chr2:231176163-231176164	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs533999979	chr2:231176175-231176176	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs374525484	chr2:231176177-231176178	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs558534066	chr2:231176178-231176179	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs570474295	chr2:231176190-231176191	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs377705244	chr2:231176194-231176195	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs201144938	chr2:231176196-231176197	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs369678024	chr2:231176238-231176239	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs376122291	chr2:231176295-231176296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187832648	chr2:231176349-231176350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554039896	chr2:231176388-231176389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572194368	chr2:231176470-231176471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192352422	chr2:231176482-231176483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184640374	chr2:231176487-231176488	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190096102	chr2:231176549-231176550	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531380397	chr2:231176580-231176581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543028982	chr2:231176601-231176602	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181853430	chr2:231176607-231176608	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369026063	chr2:231176616-231176617	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529139000	chr2:231176633-231176634	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557317388	chr2:231176648-231176649	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547588805	chr2:231176652-231176653	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:231153800-231183400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:231162600-231180800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:231165400-231180200	Weak transcription	Primary T cells from cord blood	blood
5	chr2:231165400-231181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:231165800-231181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:231170200-231175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:231172400-231180800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:231174000-231175600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:231174200-231179600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:231174400-231182000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:231175000-231177400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:231175000-231177400	Weak transcription	Spleen	Spleen
14	chr2:231175000-231183800	Weak transcription	HMEC	breast
15	chr2:231175200-231175600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:231175200-231177200	Weak transcription	GM12878-XiMat	blood
17	chr2:231175400-231176800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:231175400-231177200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:231175400-231177200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:231175400-231177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:231175400-231177400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:231175400-231180200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:231175400-231182000	Weak transcription	Lung	lung
24	chr2:231175600-231176000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:231175600-231177200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:231175600-231177200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:231176000-231181000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:231176400-231177400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:231176600-231177000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:231176600-231177200	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links