Variant report

Variant	nsv515666
Chromosome Location	chr1:158224825-158237062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD1B-4	chr1:158236543-158236709	NONHSAT006979
2	lnc-CD1B-4	chr1:158237015-158237110	NONHSAT006979

Extended variants
information (count: 540 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs411089	chr1:158224825-158224826	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375586275	chr1:158224844-158224845	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs531484228	chr1:158224862-158224863	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs372873025	chr1:158224866-158224867	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs187184165	chr1:158224869-158224870	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs192062712	chr1:158224870-158224871	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs3087217	chr1:158224881-158224882	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs373705897	chr1:158224890-158224891	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs2269714	chr1:158224904-158224905	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149019370	chr1:158224908-158224909	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs140466685	chr1:158224911-158224912	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs140904380	chr1:158224912-158224913	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs373702670	chr1:158224967-158224968	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs371301715	chr1:158224968-158224969	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs375993315	chr1:158224979-158224980	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs559573053	chr1:158224992-158224993	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs569038953	chr1:158224996-158224997	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs377400670	chr1:158225007-158225008	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs537550225	chr1:158225008-158225009	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs549161271	chr1:158225010-158225011	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs2269715	chr1:158225019-158225020	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs202190888	chr1:158225025-158225026	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs199579196	chr1:158225041-158225042	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs148007865	chr1:158225050-158225051	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs138585396	chr1:158225077-158225078	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs116290813	chr1:158225083-158225084	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs142769781	chr1:158225092-158225093	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs146048507	chr1:158225093-158225094	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs538916791	chr1:158225096-158225097	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs150885713	chr1:158225105-158225106	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs139349958	chr1:158225111-158225112	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs147750753	chr1:158225118-158225119	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs150169121	chr1:158225119-158225120	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs11800924	chr1:158225130-158225131	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs201755458	chr1:158225137-158225138	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs187686385	chr1:158225142-158225143	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs77627581	chr1:158225208-158225209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs538168250	chr1:158225221-158225222	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs572935311	chr1:158225227-158225228	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs193227561	chr1:158225236-158225237	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs3087218	chr1:158225242-158225243	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs2269716	chr1:158225243-158225244	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562675160	chr1:158225276-158225277	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs529892695	chr1:158225313-158225314	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs142783885	chr1:158225361-158225362	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs567687412	chr1:158225381-158225382	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs535093966	chr1:158225389-158225390	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs3087219	chr1:158225395-158225396	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs440419	chr1:158225396-158225397	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146049142	chr1:158225400-158225401	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158221600-158227200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:158223600-158226400	Flanking Active TSS	Thymus	Thymus
3	chr1:158223800-158226000	Flanking Active TSS	Fetal Thymus	thymus
4	chr1:158224800-158226000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr1:158224800-158226400	Strong transcription	Primary B cells from cord blood	blood
6	chr1:158224800-158227400	Weak transcription	Primary T cells from cord blood	blood
7	chr1:158225400-158226200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr1:158225400-158226200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
9	chr1:158225400-158226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:158226000-158227600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
11	chr1:158226000-158229400	Genic enhancers	Dnd41	blood
12	chr1:158226400-158226600	Enhancers	Thymus	Thymus
13	chr1:158226400-158227000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
14	chr1:158226400-158227600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:158226400-158227800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:158226600-158227000	Genic enhancers	Thymus	Thymus
17	chr1:158227000-158227600	Transcr. at gene 5' and 3'	Thymus	Thymus
18	chr1:158227000-158229000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:158227200-158229000	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:158227400-158228600	Enhancers	Primary T cells from cord blood	blood
21	chr1:158227400-158229200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:158227600-158228000	Active TSS	Thymus	Thymus
23	chr1:158227600-158228400	Active TSS	Fetal Thymus	thymus
24	chr1:158227600-158228800	Enhancers	Primary B cells from cord blood	blood
25	chr1:158227800-158228400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:158228000-158228400	Flanking Active TSS	Thymus	Thymus
27	chr1:158228400-158228800	Enhancers	Thymus	Thymus
28	chr1:158228400-158229000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
29	chr1:158228800-158231000	Weak transcription	Thymus	Thymus
30	chr1:158228800-158243600	Weak transcription	Primary B cells from cord blood	blood
31	chr1:158229000-158229800	Genic enhancers	Fetal Thymus	thymus
32	chr1:158229200-158229400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr1:158229200-158229400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr1:158229400-158231600	Weak transcription	Dnd41	blood
35	chr1:158229800-158230200	Strong transcription	Fetal Thymus	thymus
36	chr1:158230200-158231000	Weak transcription	Fetal Thymus	thymus
37	chr1:158231000-158231800	Enhancers	Thymus	Thymus
38	chr1:158231000-158232000	Enhancers	Fetal Thymus	thymus
39	chr1:158231600-158232000	Enhancers	Dnd41	blood
40	chr1:158232000-158237000	Weak transcription	Fetal Thymus	thymus
41	chr1:158237000-158237200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:158237000-158237400	ZNF genes & repeats	Fetal Thymus	thymus

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