Variant report

Variant	nsv535153
Chromosome Location	chr1:150147218-150168829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:57)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:149858307..149862337-chr1:150158669..150163004,8	MCF-7	breast:
2	chr1:150144466..150147427-chr1:150151082..150153149,2	K562	blood:
3	chr1:150146767..150148436-chr1:150150182..150153003,2	MCF-7	breast:
4	chr1:149859724..149860272-chr1:150159251..150160109,2	K562	blood:
5	chr1:150149573..150151475-chr1:150151997..150154566,2	MCF-7	breast:
6	chr1:149857369..149865402-chr1:150155748..150164645,14	K562	blood:
7	chr1:149859328..149861353-chr1:150153039..150154788,2	MCF-7	breast:
8	chr1:149858090..149860586-chr1:150150146..150152929,2	MCF-7	breast:
9	chr1:150119841..150122782-chr1:150157323..150159166,2	MCF-7	breast:
10	chr1:150144466..150147427-chr1:150151082..150153149,2	K562	blood:
11	chr1:150141416..150143115-chr1:150156273..150159432,3	K562	blood:
12	chr1:150158453..150162673-chr1:150163333..150168341,4	K562	blood:
13	chr1:150145555..150147909-chr1:150159184..150161241,2	K562	blood:
14	chr1:150153848..150155568-chr1:150157688..150159819,2	K562	blood:
15	chr1:150054292..150057277-chr1:150145897..150147789,2	MCF-7	breast:
16	chr1:150155365..150157999-chr1:150205439..150207085,2	K562	blood:
17	chr1:149855497..149863444-chr1:150156597..150162643,11	K562	blood:
18	chr1:150159276..150160101-chr15:84272402..84272922,2	MCF-7	breast:
19	chr1:150135426..150138893-chr1:150159177..150161472,3	K562	blood:
20	chr1:150158453..150162673-chr1:150163333..150168341,4	K562	blood:
21	chr1:150143512..150147427-chr1:150151082..150153697,4	K562	blood:
22	chr1:150145555..150147909-chr1:150159184..150161241,2	K562	blood:
23	chr1:150148382..150150067-chr1:150155558..150157916,2	K562	blood:
24	chr1:150138530..150142932-chr1:150151575..150154325,4	K562	blood:
25	chr1:150038925..150041395-chr1:150157701..150159841,3	MCF-7	breast:
26	chr1:150154097..150157004-chr1:150160864..150163104,2	K562	blood:
27	chr1:150149573..150151475-chr1:150151997..150154566,2	MCF-7	breast:
28	chr1:150159512..150161245-chr1:150206152..150208697,2	K562	blood:
29	chr1:150144058..150146059-chr1:150151380..150153165,2	MCF-7	breast:
30	chr1:150136368..150139381-chr1:150151940..150156173,4	K562	blood:
31	chr1:150153848..150155568-chr1:150157688..150159819,2	K562	blood:
32	chr1:150135482..150138288-chr1:150152643..150155510,2	MCF-7	breast:
33	chr1:150154097..150157004-chr1:150160864..150163104,2	K562	blood:
34	chr1:150122696..150124831-chr1:150149138..150151605,2	K562	blood:
35	chr1:149857548..149860200-chr1:150165414..150168428,4	K562	blood:
36	chr1:150134477..150137010-chr1:150153279..150155439,2	K562	blood:
37	chr1:149853460..149855808-chr1:150158235..150161131,2	K562	blood:
38	chr1:150136389..150137930-chr1:150144546..150147422,2	K562	blood:
39	chr1:149858517..149861387-chr1:150153428..150155415,2	K562	blood:
40	chr1:150135480..150137843-chr1:150155550..150159423,3	MCF-7	breast:
41	chr1:149858148..149861244-chr1:150153883..150158292,4	MCF-7	breast:
42	chr1:150159275..150161312-chr1:150162457..150164642,3	MCF-7	breast:
43	chr1:150163123..150164884-chr1:150179840..150181574,2	K562	blood:
44	chr1:150164304..150165921-chr1:150174618..150176672,2	MCF-7	breast:
45	chr1:150159275..150161312-chr1:150162457..150164642,3	MCF-7	breast:
46	chr1:150143512..150147427-chr1:150151082..150153697,4	K562	blood:
47	chr1:150146767..150148436-chr1:150150182..150153003,2	MCF-7	breast:
48	chr1:150133945..150135977-chr1:150153279..150155573,2	K562	blood:
49	chr1:150022553..150024320-chr1:150157694..150159816,2	K562	blood:
50	chr1:149897446..149899303-chr1:150157322..150158854,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHO1-1	chr1:150153147-150153235	XLOC_000401
2	lnc-PLEKHO1-1	chr1:150152356-150152459	XLOC_000401

No data

Variant related genes	Relation type
ENSG00000184270	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000023902	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000136631	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000184260	chromatin interactions
IREB2	miRNA target sites

Extended variants
information (count: 740 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187460223	chr1:150147360-150147361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80012313	chr1:150147374-150147375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587642614	chr1:150147431-150147432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115146603	chr1:150147450-150147451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72694961	chr1:150147475-150147476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146270354	chr1:150147476-150147477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587717127	chr1:150147584-150147585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587597000	chr1:150147634-150147635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139368412	chr1:150147674-150147675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142669475	chr1:150147704-150147705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587621389	chr1:150147718-150147719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190323486	chr1:150147745-150147746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183280364	chr1:150147748-150147749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375561553	chr1:150147761-150147762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374550183	chr1:150147809-150147810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34235485	chr1:150147874-150147875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187723018	chr1:150147882-150147883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587604379	chr1:150147887-150147888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145992084	chr1:150147901-150147902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192502674	chr1:150147920-150147921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72694962	chr1:150147962-150147963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112852193	chr1:150147965-150147966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146820735	chr1:150147970-150147971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139711066	chr1:150147971-150147972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199795731	chr1:150147980-150147981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs5777710	chr1:150147981-150147982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587667203	chr1:150148016-150148017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71622680	chr1:150148071-150148072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372869694	chr1:150148140-150148141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587745001	chr1:150148169-150148170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1987134	chr1:150148180-150148181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368231011	chr1:150148223-150148224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587684425	chr1:150148224-150148225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371982016	chr1:150148227-150148228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375222189	chr1:150148228-150148229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184358643	chr1:150148250-150148251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587615875	chr1:150148277-150148278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374833485	chr1:150148285-150148286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587691196	chr1:150148315-150148316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587770940	chr1:150148338-150148339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587670786	chr1:150148339-150148340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367805709	chr1:150148361-150148362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587725501	chr1:150148401-150148402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373233307	chr1:150148421-150148422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587773812	chr1:150148494-150148495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587639217	chr1:150148496-150148497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188104944	chr1:150148522-150148523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201697635	chr1:150148552-150148553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112957802	chr1:150148572-150148573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587712323	chr1:150148587-150148588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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	19286668	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150136400-150148800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:150138400-150157800	Weak transcription	Small Intestine	intestine
3	chr1:150141600-150148800	Weak transcription	GM12878-XiMat	blood
4	chr1:150141600-150150000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:150141600-150158600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:150143600-150148400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:150145400-150153000	Weak transcription	Brain Substantia Nigra	brain
8	chr1:150145600-150148400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:150145800-150150400	Weak transcription	Stomach Mucosa	stomach
10	chr1:150145800-150160000	Weak transcription	Right Atrium	heart
11	chr1:150146000-150148400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:150146000-150151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:150146000-150159200	Weak transcription	HSMMtube	muscle
14	chr1:150146200-150149800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:150146200-150153400	Weak transcription	Brain Anterior Caudate	brain
16	chr1:150146400-150148800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:150146400-150149200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:150146600-150149800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:150147000-150148600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:150147200-150159000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:150148400-150148600	Enhancers	Placenta	Placenta
22	chr1:150148400-150149000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:150148400-150149200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:150148400-150150200	Enhancers	Adipose Nuclei	Adipose
25	chr1:150148600-150149800	Weak transcription	Placenta	Placenta
26	chr1:150148600-150151800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:150148800-150149000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:150148800-150149000	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:150148800-150149200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:150148800-150149200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:150149000-150149800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr1:150149000-150152400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:150149200-150150000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:150149200-150151600	Enhancers	Fetal Intestine Small	intestine
35	chr1:150149200-150152200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:150149200-150152600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:150149800-150150000	Enhancers	Placenta	Placenta
38	chr1:150149800-150150600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:150149800-150151000	Enhancers	Fetal Intestine Large	intestine
40	chr1:150149800-150151800	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:150150000-150151200	Enhancers	Primary B cells from cord blood	blood
42	chr1:150150000-150151600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:150150000-150155800	Weak transcription	Placenta	Placenta
44	chr1:150150200-150150800	Weak transcription	Adipose Nuclei	Adipose
45	chr1:150150400-150151000	Enhancers	Stomach Mucosa	stomach
46	chr1:150150600-150150800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr1:150150800-150151000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr1:150150800-150151000	Enhancers	Adipose Nuclei	Adipose
49	chr1:150151000-150151200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr1:150151000-150159200	Weak transcription	Adipose Nuclei	Adipose

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