Variant report

Variant	nsv528220
Chromosome Location	chr2:231414688-231433237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP110-1	chr2:231415763-231415816	ENSG00000235419.1
2	lnc-SP110-1	chr2:231415763-231415816	ENSG00000235419.1

Extended variants
information (count: 875 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1612907	chr2:231414688-231414689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111698749	chr2:231414701-231414702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200355059	chr2:231414702-231414703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35849783	chr2:231414703-231414704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398042995	chr2:231414712-231414713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116592690	chr2:231414807-231414808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529901834	chr2:231414852-231414853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549418209	chr2:231414898-231414899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370246727	chr2:231414956-231414957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528557796	chr2:231414967-231414968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191097624	chr2:231414975-231414976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571300527	chr2:231414984-231414985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114005096	chr2:231414989-231414990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550869470	chr2:231415009-231415010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1649911	chr2:231415013-231415014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567123869	chr2:231415155-231415156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6756289	chr2:231415189-231415190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs554847100	chr2:231415193-231415194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566278321	chr2:231415210-231415211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182981289	chr2:231415250-231415251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533645136	chr2:231415307-231415308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558624381	chr2:231415312-231415313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576916396	chr2:231415359-231415360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544180190	chr2:231415363-231415364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571886524	chr2:231415389-231415390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562786855	chr2:231415391-231415392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574629389	chr2:231415404-231415405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542037446	chr2:231415411-231415412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2059753	chr2:231415437-231415438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528628769	chr2:231415438-231415439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2059754	chr2:231415445-231415446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564993460	chr2:231415468-231415469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6743190	chr2:231415478-231415479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6743200	chr2:231415508-231415509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs150871457	chr2:231415524-231415525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536521690	chr2:231415532-231415533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548809672	chr2:231415649-231415650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566941309	chr2:231415690-231415691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534347772	chr2:231415734-231415735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558689288	chr2:231415765-231415766	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs34528788	chr2:231415769-231415770	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs576984819	chr2:231415810-231415811	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs537875765	chr2:231415815-231415816	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs34753141	chr2:231415856-231415857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35707214	chr2:231415866-231415867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372017591	chr2:231415886-231415887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574722933	chr2:231415899-231415900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541750344	chr2:231415900-231415901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116282642	chr2:231415947-231415948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572152318	chr2:231415955-231415956	Weak 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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231401000-231430200	Weak transcription	Pancreas	Pancrea
2	chr2:231404000-231417200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:231404600-231416400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:231405800-231415000	Weak transcription	Gastric	stomach
5	chr2:231407000-231417200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:231407200-231417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:231408000-231415000	Weak transcription	GM12878-XiMat	blood
8	chr2:231408800-231417000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:231408800-231417200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:231408800-231417200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:231409400-231417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:231409800-231417200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:231410200-231417000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:231410200-231428800	Weak transcription	Primary B cells from cord blood	blood
15	chr2:231415000-231415200	Enhancers	Gastric	stomach
16	chr2:231416400-231416600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:231417000-231418000	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:231417000-231418000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:231417200-231417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:231417200-231417400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:231417200-231417600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:231417200-231417600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr2:231417200-231417800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:231417200-231417800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:231417200-231418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:231417200-231418200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:231426600-231427200	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:231427200-231429000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:231428800-231429400	Enhancers	Primary B cells from cord blood	blood
30	chr2:231429000-231429400	Enhancers	GM12878-XiMat	blood
31	chr2:231429000-231429800	Enhancers	K562	blood
32	chr2:231429000-231430600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:231429000-231430600	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:231429200-231429400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:231429200-231429400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:231429400-231429600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:231429400-231429800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr2:231429400-231429800	Flanking Active TSS	GM12878-XiMat	blood
39	chr2:231429400-231430200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr2:231429400-231430600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:231429400-231430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:231429400-231431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:231429600-231429800	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr2:231429600-231430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:231429600-231430400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:231429600-231430400	Enhancers	Fetal Thymus	thymus
47	chr2:231429600-231430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:231429800-231430200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:231429800-231430600	Enhancers	Primary hematopoietic stem cells	blood
50	chr2:231429800-231430600	Enhancers	GM12878-XiMat	blood

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