Variant report

Variant	nsv875950
Chromosome Location	chr2:231413681-231434272
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: 981 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1678192	chr2:231413681-231413682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79480424	chr2:231413707-231413708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577819860	chr2:231413727-231413728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1627497	chr2:231413730-231413731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563061132	chr2:231413746-231413747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74706682	chr2:231413762-231413763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376063211	chr2:231413765-231413766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529702021	chr2:231413804-231413805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145523032	chr2:231413812-231413813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1678193	chr2:231413818-231413819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138237374	chr2:231413820-231413821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546885401	chr2:231413866-231413867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571518488	chr2:231413890-231413891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532366040	chr2:231413922-231413923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76883935	chr2:231413923-231413924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4302207	chr2:231413943-231413944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs188911603	chr2:231413956-231413957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555523480	chr2:231414009-231414010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562996178	chr2:231414011-231414012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74893873	chr2:231414018-231414019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563489559	chr2:231414048-231414049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201825659	chr2:231414060-231414061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139910027	chr2:231414066-231414067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374327461	chr2:231414067-231414068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2042835	chr2:231414070-231414071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2042836	chr2:231414071-231414072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2042837	chr2:231414072-231414073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200043116	chr2:231414074-231414075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2042838	chr2:231414076-231414077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4433990	chr2:231414085-231414086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575044254	chr2:231414086-231414087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1678194	chr2:231414104-231414105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560784177	chr2:231414114-231414115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528094558	chr2:231414164-231414165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12329213	chr2:231414165-231414166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4435441	chr2:231414170-231414171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532430413	chr2:231414189-231414190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115336708	chr2:231414198-231414199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371073490	chr2:231414199-231414200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569069791	chr2:231414201-231414202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530946896	chr2:231414214-231414215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549464681	chr2:231414310-231414311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567626146	chr2:231414333-231414334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146093765	chr2:231414396-231414397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553078582	chr2:231414397-231414398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571636766	chr2:231414399-231414400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148321713	chr2:231414408-231414409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141546168	chr2:231414516-231414517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181329260	chr2:231414533-231414534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185597396	chr2:231414570-231414571	Weak transcription Enhancers	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:63 , 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	chr2:231408600-231414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:231408800-231414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:231408800-231417000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:231408800-231417200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:231408800-231417200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:231409400-231417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:231409800-231417200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:231410200-231417000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:231410200-231428800	Weak transcription	Primary B cells from cord blood	blood
17	chr2:231414200-231414600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:231414400-231414600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:231415000-231415200	Enhancers	Gastric	stomach
20	chr2:231416400-231416600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:231417000-231418000	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:231417000-231418000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:231417200-231417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:231417200-231417400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:231417200-231417600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:231417200-231417600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:231417200-231417800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:231417200-231417800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:231417200-231418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:231417200-231418200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:231426600-231427200	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:231427200-231429000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:231428800-231429400	Enhancers	Primary B cells from cord blood	blood
34	chr2:231429000-231429400	Enhancers	GM12878-XiMat	blood
35	chr2:231429000-231429800	Enhancers	K562	blood
36	chr2:231429000-231430600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:231429000-231430600	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:231429200-231429400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:231429200-231429400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:231429400-231429600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:231429400-231429800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr2:231429400-231429800	Flanking Active TSS	GM12878-XiMat	blood
43	chr2:231429400-231430200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr2:231429400-231430600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:231429400-231430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:231429400-231431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:231429600-231429800	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:231429600-231430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:231429600-231430400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:231429600-231430400	Enhancers	Fetal Thymus	thymus

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