Variant report

Variant	nsv547846
Chromosome Location	chr1:150861553-150862679
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	chr1:150859611..150863685-chr1:150866729..150869931,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 114 )

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	rs116502714	chr1:150861609-150861610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587769465	chr1:150861652-150861653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587642723	chr1:150861657-150861658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375001898	chr1:150861660-150861661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193073306	chr1:150861668-150861669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587680146	chr1:150861711-150861712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587707657	chr1:150861718-150861719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587611994	chr1:150861731-150861732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372021346	chr1:150861732-150861733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185064858	chr1:150861845-150861846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368847091	chr1:150861851-150861852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587739420	chr1:150861854-150861855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35782301	chr1:150861859-150861860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs377253666	chr1:150861875-150861876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587693735	chr1:150861876-150861877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587690868	chr1:150861934-150861935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10399947	chr1:150861960-150861961	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs587649850	chr1:150862016-150862017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74127060	chr1:150862097-150862098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs587758911	chr1:150862168-150862169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs587632052	chr1:150862248-150862249	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587683325	chr1:150862299-150862300	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189446167	chr1:150862316-150862317	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587642817	chr1:150862419-150862420	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370059315	chr1:150862433-150862434	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34999155	chr1:150862494-150862495	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146837025	chr1:150862598-150862599	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs372741826	chr1:150862626-150862627	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs587761919	chr1:150862638-150862639	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	21611746	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
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150854000-150862200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:150854600-150862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:150856800-150861800	Weak transcription	GM12878-XiMat	blood
4	chr1:150859800-150867800	Weak transcription	Hela-S3	cervix
5	chr1:150860200-150863600	Weak transcription	Placenta	Placenta
6	chr1:150861200-150863800	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:150861400-150863800	Enhancers	Primary B cells from cord blood	blood
8	chr1:150861600-150862200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:150861600-150864400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:150861800-150862000	Enhancers	GM12878-XiMat	blood
11	chr1:150861800-150862200	Enhancers	Primary T cells from cord blood	blood
12	chr1:150861800-150863400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:150861800-150863400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:150861800-150863600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:150862000-150862200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:150862000-150862400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:150862000-150862600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:150862000-150862800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:150862000-150862800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:150862000-150863000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:150862000-150863000	Enhancers	Dnd41	blood
22	chr1:150862000-150863000	Flanking Active TSS	GM12878-XiMat	blood
23	chr1:150862000-150863200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:150862000-150863400	Enhancers	Fetal Thymus	thymus
28	chr1:150862000-150863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:150862200-150862400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:150862200-150862600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr1:150862200-150863000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr1:150862200-150863000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:150862200-150863000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:150862200-150863400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:150862400-150862600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:150862400-150862800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:150862400-150863000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:150862600-150862800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:150862600-150863600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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