Variant report

Variant	nsv872445
Chromosome Location	chr1:152411813-152440753
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:86)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:86 , 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	chr1:152160401..152162851-chr1:152430959..152432557,2	K562	blood:
3	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
4	chr1:152163573..152164481-chr1:152430706..152431340,2	MCF-7	breast:
5	chr1:152161771..152162690-chr1:152430545..152431431,5	MCF-7	breast:
6	chr1:152430033..152432133-chr20:52323430..52325035,2	MCF-7	breast:
7	chr1:152438046..152439831-chr1:152440733..152443313,2	MCF-7	breast:
8	chr1:152319690..152320209-chr1:152430662..152431472,2	MCF-7	breast:
9	chr1:152427149..152431116-chr1:152432687..152434302,3	MCF-7	breast:
10	chr1:152162203..152163021-chr1:152413054..152413609,4	K562	blood:
11	chr1:152413327..152415883-chr1:152427595..152432391,4	MCF-7	breast:
12	chr1:152411861..152413555-chr1:152429926..152432618,2	MCF-7	breast:
13	chr1:152024732..152025426-chr1:152430646..152431152,2	MCF-7	breast:
14	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
15	chr1:152412473..152414075-chr1:152416605..152419173,2	K562	blood:
16	chr1:152162094..152162616-chr1:152433702..152434231,2	MCF-7	breast:
17	chr1:152413209..152414030-chr1:152423642..152424387,3	MCF-7	breast:
18	chr1:152371521..152372442-chr1:152434025..152434594,3	MCF-7	breast:
19	chr1:152413939..152415718-chr1:152422401..152425266,2	K562	blood:
20	chr1:152379125..152381578-chr1:152431090..152434005,2	MCF-7	breast:
21	chr1:152024764..152025483-chr1:152413415..152413970,2	K562	blood:
22	chr1:152433975..152434768-chr1:152504695..152505339,2	MCF-7	breast:
23	chr1:152162025..152163025-chr1:152423504..152424104,2	MCF-7	breast:
24	chr1:152160345..152163243-chr1:152429950..152431845,23	MCF-7	breast:
25	chr1:152160826..152162605-chr1:152429610..152431734,2	MCF-7	breast:
26	chr1:152417168..152419801-chr1:152421193..152423386,2	MCF-7	breast:
27	chr1:152371260..152371847-chr1:152429974..152430481,2	MCF-7	breast:
28	chr1:152371279..152372420-chr1:152423452..152424428,9	MCF-7	breast:
29	chr1:152420424..152422522-chr1:152426389..152428703,2	MCF-7	breast:
30	chr1:152416762..152419468-chr1:152419626..152422277,3	MCF-7	breast:
31	chr1:152413332..152413978-chr1:152430103..152431369,3	MCF-7	breast:
32	chr1:152161080..152162827-chr1:152413067..152413987,7	MCF-7	breast:
33	chr1:152411861..152413555-chr1:152429926..152432618,2	MCF-7	breast:
34	chr1:152368385..152370359-chr1:152413395..152416053,2	MCF-7	breast:
35	chr1:152369874..152370523-chr1:152423403..152423977,2	MCF-7	breast:
36	chr1:152432248..152432959-chr20:52560044..52560553,2	MCF-7	breast:
37	chr1:152412473..152414075-chr1:152416605..152419173,2	K562	blood:
38	chr1:152370764..152372337-chr1:152412999..152414162,14	MCF-7	breast:
39	chr1:152160802..152161752-chr1:152430569..152431282,4	MCF-7	breast:
40	chr1:152369903..152370605-chr1:152413321..152413987,3	MCF-7	breast:
41	chr1:152371262..152372278-chr1:152423429..152424421,10	MCF-7	breast:
42	chr1:152413327..152415883-chr1:152427595..152432391,4	MCF-7	breast:
43	chr1:152160966..152161616-chr1:152433035..152433995,2	MCF-7	breast:
44	chr1:152179245..152182168-chr1:152419256..152421310,2	MCF-7	breast:
45	chr1:152199924..152200497-chr1:152432483..152433028,2	MCF-7	breast:
46	chr1:152417168..152419801-chr1:152421193..152423386,2	MCF-7	breast:
47	chr1:152413332..152413978-chr1:152430103..152431369,3	MCF-7	breast:
48	chr1:152081901..152084932-chr1:152421607..152423575,3	MCF-7	breast:
49	chr1:152413939..152415718-chr1:152422401..152425266,2	K562	blood:
50	chr1:152382247..152383897-chr1:152418501..152421337,2	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
ENSG00000237975	chromatin interactions
ENSG00000183586	chromatin interactions
ENSG00000163191	chromatin interactions

Extended variants
information (count: 729 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:729 , 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	rs11579266	chr1:152411813-152411814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574821298	chr1:152411916-152411917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202212885	chr1:152411926-152411927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12076464	chr1:152411954-152411955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563139655	chr1:152411995-152411996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112486457	chr1:152412017-152412018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545649808	chr1:152412027-152412028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558935972	chr1:152412048-152412049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185031770	chr1:152412050-152412051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532761828	chr1:152412073-152412074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138799371	chr1:152412075-152412076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561863857	chr1:152412111-152412112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530519816	chr1:152412112-152412113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141233181	chr1:152412114-152412115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190322884	chr1:152412134-152412135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539356788	chr1:152412135-152412136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11577946	chr1:152412143-152412144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs536383554	chr1:152412151-152412152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116433847	chr1:152412172-152412173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2146118	chr1:152412196-152412197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117920800	chr1:152412212-152412213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574922147	chr1:152412227-152412228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537100263	chr1:152412277-152412278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556747572	chr1:152412284-152412285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201989665	chr1:152412299-152412300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78886843	chr1:152412328-152412329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369541413	chr1:152412350-152412351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559248946	chr1:152412396-152412397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533893887	chr1:152412400-152412401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181840626	chr1:152412489-152412490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114387905	chr1:152412497-152412498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561481154	chr1:152412523-152412524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146946564	chr1:152412610-152412611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184813616	chr1:152412674-152412675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs137948134	chr1:152412679-152412680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6695950	chr1:152412687-152412688	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532783197	chr1:152412707-152412708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552790822	chr1:152412715-152412716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566402142	chr1:152412789-152412790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528776361	chr1:152412794-152412795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188826210	chr1:152412805-152412806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568322133	chr1:152412891-152412892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537161493	chr1:152412899-152412900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557005209	chr1:152412920-152412921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180863462	chr1:152412955-152412956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576701678	chr1:152412962-152412963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141626986	chr1:152412970-152412971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150699818	chr1:152412971-152412972	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138935033	chr1:152413001-152413002	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541719939	chr1:152413009-152413010	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	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:307 , 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	chr1:152410600-152413600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:152410800-152413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:152410800-152413200	Weak transcription	NHEK	skin
8	chr1:152411600-152413200	Weak transcription	Esophagus	oesophagus
9	chr1:152412800-152413000	Enhancers	Thymus	Thymus
10	chr1:152413000-152413200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr1:152413000-152413800	Enhancers	HMEC	breast
12	chr1:152413000-152416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:152413200-152413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:152413200-152413400	Enhancers	Liver	Liver
15	chr1:152413200-152413400	Enhancers	Brain Anterior Caudate	brain
16	chr1:152413200-152413400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:152413200-152413400	Enhancers	Esophagus	oesophagus
18	chr1:152413200-152413400	Enhancers	Left Ventricle	heart
19	chr1:152413200-152413400	Enhancers	Right Atrium	heart
20	chr1:152413200-152413400	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:152413200-152413600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:152413200-152413600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:152413200-152413600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr1:152413200-152413600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:152413200-152413600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:152413200-152413600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:152413200-152413600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:152413200-152413600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:152413200-152413600	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:152413200-152413600	Enhancers	Lung	lung
31	chr1:152413200-152413600	Enhancers	Ovary	ovary
32	chr1:152413200-152413600	Enhancers	Pancreas	Pancrea
33	chr1:152413200-152413600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:152413200-152413800	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:152413200-152413800	Enhancers	Brain Angular Gyrus	brain
36	chr1:152413200-152413800	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:152413200-152413800	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:152413200-152414400	Enhancers	Fetal Stomach	stomach
39	chr1:152413200-152415200	Enhancers	NHEK	skin
40	chr1:152413400-152413600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:152413400-152413600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr1:152413400-152413800	Weak transcription	Esophagus	oesophagus
43	chr1:152413400-152413800	Enhancers	A549	lung
44	chr1:152413400-152414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:152413600-152413800	Enhancers	Thymus	Thymus
46	chr1:152413600-152414800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:152413600-152415200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:152413600-152415200	Weak transcription	Left Ventricle	heart
49	chr1:152413600-152415200	Weak transcription	Lung	lung
50	chr1:152413600-152415200	Weak transcription	Pancreas	Pancrea

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