Variant report

Variant	nsv523252
Chromosome Location	chr1:158295009-158295629
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	chr1:158293471..158295663-chr1:158295723..158298023,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1321646	chr1:158295009-158295010	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553764767	chr1:158295034-158295035	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114670120	chr1:158295054-158295055	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545043897	chr1:158295092-158295093	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73027856	chr1:158295126-158295127	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576196080	chr1:158295155-158295156	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560369115	chr1:158295229-158295230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140988417	chr1:158295251-158295252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562672150	chr1:158295254-158295255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150255481	chr1:158295255-158295256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541836827	chr1:158295266-158295267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115075660	chr1:158295267-158295268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527994138	chr1:158295320-158295321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186270716	chr1:158295347-158295348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139988688	chr1:158295348-158295349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571117357	chr1:158295359-158295360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532336923	chr1:158295372-158295373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531859646	chr1:158295373-158295374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201848619	chr1:158295428-158295429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57890038	chr1:158295431-158295432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143831923	chr1:158295442-158295443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80129719	chr1:158295453-158295454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375819743	chr1:158295455-158295456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187150860	chr1:158295457-158295458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112011606	chr1:158295476-158295477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568176080	chr1:158295490-158295491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535511281	chr1:158295516-158295517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547416939	chr1:158295616-158295617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10797007	chr1:158295629-158295630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:107)

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	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158293800-158298200	Weak transcription	Primary B cells from cord blood	blood
2	chr1:158294000-158295200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:158294200-158295200	Strong transcription	Dnd41	blood
4	chr1:158294200-158296600	Weak transcription	Thymus	Thymus
5	chr1:158294200-158296800	Strong transcription	Fetal Thymus	thymus
6	chr1:158294800-158295200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:158295200-158295800	Weak transcription	Dnd41	blood
8	chr1:158295200-158297000	Weak transcription	Primary monocytes fromperipheralblood	blood

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