Variant report

Variant	nsv872443
Chromosome Location	chr1:152400055-152459747
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:92)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:152156496..152159778-chr1:152417500..152420866,3	MCF-7	breast:
2	chr1:152413209..152414030-chr1:152423642..152424387,3	MCF-7	breast:
3	chr1:152409912..152411459-chr1:152419284..152421923,2	MCF-7	breast:
4	chr1:152161041..152161774-chr1:152423855..152424586,2	MCF-7	breast:
5	chr1:152370558..152373181-chr1:152412666..152414314,2	MCF-7	breast:
6	chr1:152458591..152459582-chr1:152505807..152506392,3	MCF-7	breast:
7	chr1:152398888..152401271-chr1:152403160..152405012,2	MCF-7	breast:
8	chr1:152416762..152419468-chr1:152419626..152422277,3	MCF-7	breast:
9	chr1:152413332..152413978-chr1:152430103..152431369,3	MCF-7	breast:
10	chr1:152369874..152370523-chr1:152423403..152423977,2	MCF-7	breast:
11	chr1:152431515..152433296-chr20:52368931..52371205,2	MCF-7	breast:
12	chr1:152160401..152162851-chr1:152430959..152432557,2	K562	blood:
13	chr1:152440552..152443161-chr1:152444517..152447318,2	MCF-7	breast:
14	chr1:152417168..152419801-chr1:152421193..152423386,2	MCF-7	breast:
15	chr1:152420424..152422522-chr1:152426389..152428703,2	MCF-7	breast:
16	chr1:152160826..152162605-chr1:152429610..152431734,2	MCF-7	breast:
17	chr1:152370937..152372499-chr1:152412540..152414323,43	MCF-7	breast:
18	chr1:152025140..152025697-chr1:152430572..152431473,3	K562	blood:
19	chr1:152440552..152443161-chr1:152444517..152447318,2	MCF-7	breast:
20	chr1:152432539..152433414-chr6:8612704..8613456,2	MCF-7	breast:
21	chr1:152319690..152320209-chr1:152430662..152431472,2	MCF-7	breast:
22	chr1:152420424..152422522-chr1:152426389..152428703,2	MCF-7	breast:
23	chr1:152369672..152370659-chr1:152413047..152413901,4	MCF-7	breast:
24	chr1:152398888..152401271-chr1:152403160..152405012,2	MCF-7	breast:
25	chr1:152413939..152415718-chr1:152422401..152425266,2	K562	blood:
26	chr1:152368385..152370359-chr1:152413395..152416053,2	MCF-7	breast:
27	chr1:152160345..152163243-chr1:152429950..152431845,23	MCF-7	breast:
28	chr1:152370764..152372337-chr1:152412999..152414162,14	MCF-7	breast:
29	chr1:152162025..152163025-chr1:152423504..152424104,2	MCF-7	breast:
30	chr1:152433975..152434768-chr1:152504695..152505339,2	MCF-7	breast:
31	chr1:152162395..152164443-chr1:152410728..152413718,2	MCF-7	breast:
32	chr1:152199924..152200497-chr1:152432483..152433028,2	MCF-7	breast:
33	chr1:152417168..152419801-chr1:152421193..152423386,2	MCF-7	breast:
34	chr1:152081901..152084932-chr1:152421607..152423575,3	MCF-7	breast:
35	chr1:152161950..152165021-chr1:152419938..152422984,3	K562	blood:
36	chr1:152371279..152372420-chr1:152423452..152424428,9	MCF-7	breast:
37	chr1:152433247..152435686-chr1:152436422..152439223,2	MCF-7	breast:
38	chr1:152413209..152414030-chr1:152423642..152424387,3	MCF-7	breast:
39	chr1:152369802..152370305-chr1:152430586..152431135,2	K562	blood:
40	chr1:152370854..152372408-chr1:152430534..152432083,18	MCF-7	breast:
41	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
42	chr1:152411861..152413555-chr1:152429926..152432618,2	MCF-7	breast:
43	chr1:152433247..152435686-chr1:152436422..152439223,2	MCF-7	breast:
44	chr1:152162094..152162616-chr1:152433702..152434231,2	MCF-7	breast:
45	chr1:152438046..152439831-chr1:152440733..152443313,2	MCF-7	breast:
46	chr1:152433729..152434269-chr1:152505524..152506462,2	MCF-7	breast:
47	chr1:152179245..152182168-chr1:152419256..152421310,2	MCF-7	breast:
48	chr1:152006513..152009632-chr1:152432632..152435918,6	MCF-7	breast:
49	chr1:152371233..152372113-chr1:152416581..152417372,2	MCF-7	breast:
50	chr1:152161080..152162827-chr1:152413067..152413987,7	MCF-7	breast:

(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
ENSG00000163191	chromatin interactions
ENSG00000237975	chromatin interactions
ENSG00000183586	chromatin interactions

Extended variants
information (count: 1403 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1403 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs726865	chr1:152400055-152400056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74127939	chr1:152400079-152400080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570974140	chr1:152400080-152400081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543269280	chr1:152400116-152400117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184073395	chr1:152400172-152400173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115856361	chr1:152400187-152400188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189975559	chr1:152400235-152400236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563148133	chr1:152400263-152400264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs726864	chr1:152400293-152400294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs5777806	chr1:152400301-152400302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557173067	chr1:152400302-152400303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386635469	chr1:152400312-152400313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577917746	chr1:152400313-152400314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200109230	chr1:152400316-152400317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs726863	chr1:152400361-152400362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs144968250	chr1:152400372-152400373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573635688	chr1:152400387-152400388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78799607	chr1:152400399-152400400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112582918	chr1:152400428-152400429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568741137	chr1:152400441-152400442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73001343	chr1:152400497-152400498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192272151	chr1:152400513-152400514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145538595	chr1:152400527-152400528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145311894	chr1:152400541-152400542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533686622	chr1:152400562-152400563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546841709	chr1:152400588-152400589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184678321	chr1:152400591-152400592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79185513	chr1:152403000-152403001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs560984400	chr1:152403027-152403028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369882213	chr1:152403035-152403036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140346854	chr1:152403043-152403044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs182354909	chr1:152403054-152403055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532308466	chr1:152403058-152403059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs552012581	chr1:152403059-152403060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565351766	chr1:152403206-152403207	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12067899	chr1:152403228-152403229	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528285382	chr1:152403255-152403256	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568093646	chr1:152403267-152403268	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12067942	chr1:152403270-152403271	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs556486056	chr1:152403271-152403272	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528169067	chr1:152403279-152403280	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79611012	chr1:152403298-152403299	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368852937	chr1:152403304-152403305	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7536684	chr1:152403311-152403312	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564713440	chr1:152403327-152403328	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11205002	chr1:152403339-152403340	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140208232	chr1:152403412-152403413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550249719	chr1:152403419-152403420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554993661	chr1:152403461-152403462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190895876	chr1:152403482-152403483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Ovarian cancer	21781307	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152399400-152400200	Enhancers	NHEK	skin
2	chr1:152399600-152400200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:152399600-152400600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152399800-152400200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152403000-152403600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:152403200-152403400	Enhancers	Gastric	stomach
7	chr1:152408400-152410800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:152408600-152410400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:152408600-152410400	Enhancers	HMEC	breast
10	chr1:152408600-152410600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:152408600-152410800	Enhancers	NHEK	skin
12	chr1:152408800-152409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:152408800-152409800	Enhancers	HSMM	muscle
14	chr1:152409000-152409400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:152409000-152409600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:152409200-152410200	Enhancers	HSMMtube	muscle
17	chr1:152409400-152409800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:152409400-152409800	Enhancers	NHDF-Ad	bronchial
19	chr1:152409400-152410000	Enhancers	Stomach Mucosa	stomach
20	chr1:152409400-152414800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:152409600-152414600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:152409800-152416600	Weak transcription	HSMM	muscle
23	chr1:152410200-152415400	Weak transcription	HSMMtube	muscle
24	chr1:152410600-152411400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:152410600-152411600	Enhancers	Esophagus	oesophagus
26	chr1:152410600-152413600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:152410800-152413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:152410800-152413200	Weak transcription	NHEK	skin
29	chr1:152411600-152413200	Weak transcription	Esophagus	oesophagus
30	chr1:152412800-152413000	Enhancers	Thymus	Thymus
31	chr1:152413000-152413200	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr1:152413000-152413800	Enhancers	HMEC	breast
33	chr1:152413000-152416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:152413200-152413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:152413200-152413400	Enhancers	Liver	Liver
36	chr1:152413200-152413400	Enhancers	Brain Anterior Caudate	brain
37	chr1:152413200-152413400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:152413200-152413400	Enhancers	Esophagus	oesophagus
39	chr1:152413200-152413400	Enhancers	Left Ventricle	heart
40	chr1:152413200-152413400	Enhancers	Right Atrium	heart
41	chr1:152413200-152413400	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:152413200-152413600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:152413200-152413600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr1:152413200-152413600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr1:152413200-152413600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:152413200-152413600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:152413200-152413600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:152413200-152413600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:152413200-152413600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:152413200-152413600	Enhancers	Duodenum Mucosa	Duodenum

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