Variant report

Variant	nsv548346
Chromosome Location	chr1:180747033-180755321
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180502426..180503404-chr1:180747989..180748600,2	MCF-7	breast:
2	chr1:180745041..180748081-chr1:180751703..180755514,3	MCF-7	breast:
3	chr1:180747802..180748637-chr1:180831455..180833255,10	MCF-7	breast:
4	chr1:180747556..180748298-chr1:181135354..181136258,3	MCF-7	breast:
5	chr1:180745041..180748081-chr1:180751703..180755514,3	MCF-7	breast:
6	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
7	chr1:180484690..180485597-chr1:180747775..180748476,3	MCF-7	breast:
8	chr1:180605186..180605917-chr1:180747764..180748768,4	MCF-7	breast:
9	chr1:180747682..180748432-chr6:34122218..34123052,2	MCF-7	breast:
10	chr1:180748060..180748623-chr1:180832247..180832938,2	MCF-7	breast:
11	chr1:180744340..180747816-chr1:180748968..180751117,3	K562	blood:
12	chr1:180461405..180464070-chr1:180746505..180748315,2	K562	blood:
13	chr1:180744340..180747816-chr1:180748968..180751117,3	K562	blood:
14	chr1:180752587..180754098-chr1:180771744..180774694,2	K562	blood:
15	chr1:180747676..180748345-chr1:180832454..180832976,2	K562	blood:
16	chr1:180739733..180743864-chr1:180743918..180747985,4	K562	blood:
17	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
18	chr1:180747652..180748487-chr1:180851159..180851718,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143324	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10914100	chr1:180747033-180747034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371587510	chr1:180747075-180747076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183084106	chr1:180747115-180747116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376388277	chr1:180747155-180747156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143526843	chr1:180747178-180747179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186695835	chr1:180747218-180747219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10914101	chr1:180747265-180747266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573205532	chr1:180747288-180747289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10914102	chr1:180747301-180747302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565016158	chr1:180747329-180747330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201406943	chr1:180747349-180747350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10914103	chr1:180747395-180747396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568151715	chr1:180747396-180747397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550751181	chr1:180747436-180747437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371081572	chr1:180747452-180747453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536113660	chr1:180747488-180747489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563143009	chr1:180747499-180747500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530281111	chr1:180747549-180747550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548871147	chr1:180747582-180747583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567113953	chr1:180747598-180747599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3013635	chr1:180747610-180747611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571358761	chr1:180747637-180747638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3013636	chr1:180747643-180747644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190948546	chr1:180747649-180747650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35876811	chr1:180747667-180747668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535591724	chr1:180747683-180747684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544275196	chr1:180747695-180747696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182846928	chr1:180747728-180747729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536122761	chr1:180747751-180747752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs3013637	chr1:180747759-180747760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572830452	chr1:180747778-180747779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540216790	chr1:180747794-180747795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564976990	chr1:180747796-180747797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35230355	chr1:180747829-180747830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576922504	chr1:180747872-180747873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113463961	chr1:180747945-180747946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373548516	chr1:180747986-180747987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188085778	chr1:180748033-180748034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542128411	chr1:180748040-180748041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560814433	chr1:180748057-180748058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528034609	chr1:180748062-180748063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546617604	chr1:180748085-180748086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571268510	chr1:180748101-180748102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532207491	chr1:180748147-180748148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114318070	chr1:180748173-180748174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192878221	chr1:180748198-180748199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs57893270	chr1:180748232-180748233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143694776	chr1:180748242-180748243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566418950	chr1:180748348-180748349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs397724409	chr1:180748349-180748350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180715400-180747600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
4	chr1:180738000-180751200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:180740200-180751000	Weak transcription	Fetal Brain Female	brain
6	chr1:180740200-180753000	Weak transcription	Small Intestine	intestine
7	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
8	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:180743400-180757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:180743400-180763000	Weak transcription	HSMM	muscle
13	chr1:180744000-180757200	Weak transcription	Primary T cells from cord blood	blood
14	chr1:180744400-180751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:180746600-180748400	Enhancers	Liver	Liver
16	chr1:180746600-180751400	Weak transcription	Fetal Brain Male	brain
17	chr1:180747000-180756800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:180747200-180747800	Enhancers	Aorta	Aorta
19	chr1:180747600-180748200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:180747800-180761000	Weak transcription	Aorta	Aorta
21	chr1:180748200-180755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:180749000-180749400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:180749000-180749600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:180749000-180749600	Enhancers	Fetal Heart	heart
25	chr1:180749400-180761200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:180749600-180761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:180751000-180751200	Enhancers	Fetal Brain Female	brain
28	chr1:180751000-180751400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:180751000-180751600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:180751000-180751800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:180751000-180753000	Enhancers	Left Ventricle	heart
32	chr1:180751200-180751600	Weak transcription	Fetal Brain Female	brain
33	chr1:180751200-180752400	Enhancers	Brain Anterior Caudate	brain
34	chr1:180751400-180751800	Enhancers	Brain Angular Gyrus	brain
35	chr1:180751400-180751800	Enhancers	Brain Substantia Nigra	brain
36	chr1:180751400-180751800	Enhancers	Fetal Brain Male	brain
37	chr1:180751400-180774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:180751600-180751800	Enhancers	Fetal Brain Female	brain
39	chr1:180751800-180752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:180751800-180754000	Weak transcription	Fetal Brain Male	brain
41	chr1:180751800-180755000	Weak transcription	Fetal Brain Female	brain
42	chr1:180752800-180753200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:180753000-180753200	Enhancers	Small Intestine	intestine
44	chr1:180753000-180756600	Weak transcription	Left Ventricle	heart
45	chr1:180753200-180754000	Weak transcription	Small Intestine	intestine
46	chr1:180753200-180754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:180754000-180754800	Enhancers	A549	lung
48	chr1:180754000-180755000	Enhancers	Osteobl	bone
49	chr1:180754000-180756800	Enhancers	Fetal Brain Male	brain
50	chr1:180754200-180754400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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