Variant report

Variant	nsv463850
Chromosome Location	chr1:152411090-152434009
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:83)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:152413939..152415718-chr1:152422401..152425266,2	K562	blood:
2	chr1:152024764..152025483-chr1:152413415..152413970,2	K562	blood:
3	chr1:152414849..152417145-chr1:152419655..152422023,2	K562	blood:
4	chr1:152160345..152163243-chr1:152429950..152431845,23	MCF-7	breast:
5	chr1:152369903..152370605-chr1:152413321..152413987,3	MCF-7	breast:
6	chr1:152160966..152161616-chr1:152433035..152433995,2	MCF-7	breast:
7	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
8	chr1:152161950..152165021-chr1:152419938..152422984,3	K562	blood:
9	chr1:152160785..152161519-chr1:152413069..152413968,2	K562	blood:
10	chr1:152433247..152435686-chr1:152436422..152439223,2	MCF-7	breast:
11	chr1:152432539..152433414-chr6:8612704..8613456,2	MCF-7	breast:
12	chr1:152432248..152432959-chr20:52560044..52560553,2	MCF-7	breast:
13	chr1:152413327..152415883-chr1:152427595..152432391,4	MCF-7	breast:
14	chr1:152161041..152161774-chr1:152423855..152424586,2	MCF-7	breast:
15	chr1:152179245..152182168-chr1:152419256..152421310,2	MCF-7	breast:
16	chr1:152413332..152413978-chr1:152430103..152431369,3	MCF-7	breast:
17	chr1:152379125..152381578-chr1:152431090..152434005,2	MCF-7	breast:
18	chr1:152433975..152434768-chr1:152504695..152505339,2	MCF-7	breast:
19	chr1:152370872..152372629-chr1:152430126..152431524,8	MCF-7	breast:
20	chr1:152416762..152419468-chr1:152419626..152422277,3	MCF-7	breast:
21	chr1:152411861..152413555-chr1:152429926..152432618,2	MCF-7	breast:
22	chr1:152370937..152372499-chr1:152412540..152414323,43	MCF-7	breast:
23	chr1:152381932..152383995-chr1:152409880..152411617,2	MCF-7	breast:
24	chr1:152160826..152162605-chr1:152429610..152431734,2	MCF-7	breast:
25	chr1:152409912..152411459-chr1:152419284..152421923,2	MCF-7	breast:
26	chr1:152319690..152320209-chr1:152430662..152431472,2	MCF-7	breast:
27	chr1:152370764..152372337-chr1:152412999..152414162,14	MCF-7	breast:
28	chr1:152369874..152370523-chr1:152423403..152423977,2	MCF-7	breast:
29	chr1:152160802..152161752-chr1:152430569..152431282,4	MCF-7	breast:
30	chr1:152199924..152200497-chr1:152432483..152433028,2	MCF-7	breast:
31	chr1:152162094..152162616-chr1:152433702..152434231,2	MCF-7	breast:
32	chr1:152431515..152433296-chr20:52368931..52371205,2	MCF-7	breast:
33	chr1:152371233..152372113-chr1:152416581..152417372,2	MCF-7	breast:
34	chr1:152156496..152159778-chr1:152417500..152420866,3	MCF-7	breast:
35	chr1:152370558..152373181-chr1:152412666..152414314,2	MCF-7	breast:
36	chr1:152160401..152162851-chr1:152430959..152432557,2	K562	blood:
37	chr1:152160983..152163280-chr1:152412961..152414390,15	MCF-7	breast:
38	chr1:152427149..152431116-chr1:152432687..152434302,3	MCF-7	breast:
39	chr1:152429890..152430689-chr3:61733424..61734259,2	MCF-7	breast:
40	chr1:152025140..152025697-chr1:152430572..152431473,3	K562	blood:
41	chr1:152024732..152025426-chr1:152430646..152431152,2	MCF-7	breast:
42	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
43	chr1:152161080..152162827-chr1:152413067..152413987,7	MCF-7	breast:
44	chr1:152411861..152413555-chr1:152429926..152432618,2	MCF-7	breast:
45	chr1:152368385..152370359-chr1:152413395..152416053,2	MCF-7	breast:
46	chr1:152162027..152162959-chr1:152423046..152424098,5	MCF-7	breast:
47	chr1:152160487..152160988-chr1:152413455..152414286,2	MCF-7	breast:
48	chr1:152420424..152422522-chr1:152426389..152428703,2	MCF-7	breast:
49	chr1:152413209..152414030-chr1:152423642..152424387,3	MCF-7	breast:
50	chr1:152369802..152370305-chr1:152430586..152431135,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-1	chr1:152417320-152417932	ENSG00000227415.1

No data

Variant related genes	Relation type
ENSG00000183586	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000237975	chromatin interactions

Extended variants
information (count: 690 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10888488	chr1:152411090-152411091	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370307112	chr1:152411115-152411116	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1923501	chr1:152411153-152411154	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs554073126	chr1:152411172-152411173	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567803860	chr1:152411201-152411202	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199911702	chr1:152411214-152411215	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183368016	chr1:152411222-152411223	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556785283	chr1:152411238-152411239	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374476500	chr1:152411262-152411263	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115673901	chr1:152411318-152411319	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145072323	chr1:152411321-152411322	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187114072	chr1:152411387-152411388	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562626977	chr1:152411392-152411393	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572577981	chr1:152411404-152411405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72698958	chr1:152411425-152411426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12061033	chr1:152411464-152411465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541894360	chr1:152411504-152411505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377613421	chr1:152411535-152411536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543231376	chr1:152411578-152411579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563277646	chr1:152411604-152411605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532263653	chr1:152411623-152411624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143140502	chr1:152411639-152411640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191220956	chr1:152411642-152411643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528180485	chr1:152411659-152411660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548231073	chr1:152411674-152411675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567783736	chr1:152411675-152411676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183765931	chr1:152411677-152411678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145735143	chr1:152411720-152411721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187752142	chr1:152411732-152411733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570410558	chr1:152411736-152411737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540146420	chr1:152411739-152411740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193261271	chr1:152411744-152411745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559002587	chr1:152411750-152411751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112306045	chr1:152411773-152411774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373591719	chr1:152411776-152411777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572438092	chr1:152411796-152411797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534830384	chr1:152411808-152411809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11579266	chr1:152411813-152411814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs574821298	chr1:152411916-152411917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202212885	chr1:152411926-152411927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12076464	chr1:152411954-152411955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563139655	chr1:152411995-152411996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112486457	chr1:152412017-152412018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545649808	chr1:152412027-152412028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558935972	chr1:152412048-152412049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185031770	chr1:152412050-152412051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532761828	chr1:152412073-152412074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138799371	chr1:152412075-152412076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561863857	chr1:152412111-152412112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530519816	chr1:152412112-152412113	Weak transcription	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	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
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Anaplastic large cell lymphoma	20824076	CNVD
Papillary thyroid carcinoma	20824076	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152409400-152414800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:152409600-152414600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:152409800-152416600	Weak transcription	HSMM	muscle
4	chr1:152410200-152415400	Weak transcription	HSMMtube	muscle
5	chr1:152410600-152411400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:152410600-152411600	Enhancers	Esophagus	oesophagus
7	chr1:152410600-152413600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:152410800-152413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:152410800-152413200	Weak transcription	NHEK	skin
10	chr1:152411600-152413200	Weak transcription	Esophagus	oesophagus
11	chr1:152412800-152413000	Enhancers	Thymus	Thymus
12	chr1:152413000-152413200	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr1:152413000-152413800	Enhancers	HMEC	breast
14	chr1:152413000-152416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:152413200-152413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:152413200-152413400	Enhancers	Liver	Liver
17	chr1:152413200-152413400	Enhancers	Brain Anterior Caudate	brain
18	chr1:152413200-152413400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:152413200-152413400	Enhancers	Esophagus	oesophagus
20	chr1:152413200-152413400	Enhancers	Left Ventricle	heart
21	chr1:152413200-152413400	Enhancers	Right Atrium	heart
22	chr1:152413200-152413400	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:152413200-152413600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:152413200-152413600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:152413200-152413600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr1:152413200-152413600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:152413200-152413600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:152413200-152413600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:152413200-152413600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:152413200-152413600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:152413200-152413600	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:152413200-152413600	Enhancers	Lung	lung
33	chr1:152413200-152413600	Enhancers	Ovary	ovary
34	chr1:152413200-152413600	Enhancers	Pancreas	Pancrea
35	chr1:152413200-152413600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:152413200-152413800	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:152413200-152413800	Enhancers	Brain Angular Gyrus	brain
38	chr1:152413200-152413800	Enhancers	Brain Cingulate Gyrus	brain
39	chr1:152413200-152413800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:152413200-152414400	Enhancers	Fetal Stomach	stomach
41	chr1:152413200-152415200	Enhancers	NHEK	skin
42	chr1:152413400-152413600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:152413400-152413600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr1:152413400-152413800	Weak transcription	Esophagus	oesophagus
45	chr1:152413400-152413800	Enhancers	A549	lung
46	chr1:152413400-152414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:152413600-152413800	Enhancers	Thymus	Thymus
48	chr1:152413600-152414800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:152413600-152415200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:152413600-152415200	Weak transcription	Left Ventricle	heart

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