Variant report

Variant	nsv524142
Chromosome Location	chr5:14986700-15018537
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:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14972075..14974642-chr5:14995746..14998492,2	MCF-7	breast:
2	chr5:14685514..14686500-chr5:15003255..15004071,2	MCF-7	breast:
3	chr5:14663710..14667318-chr5:15013208..15015623,3	MCF-7	breast:
4	chr5:14946879..14947508-chr5:15013777..15014301,2	MCF-7	breast:
5	chr5:14663778..14665710-chr5:15008734..15011758,3	MCF-7	breast:
6	chr5:14727160..14728136-chr5:15003296..15004188,4	K562	blood:
7	chr5:14998977..15001072-chr5:15002735..15004861,2	MCF-7	breast:
8	chr5:14998977..15001072-chr5:15002735..15004861,2	MCF-7	breast:
9	chr5:14871679..14872526-chr5:15003504..15004055,2	MCF-7	breast:
10	chr5:14727116..14728426-chr5:15013298..15014619,7	K562	blood:
11	chr5:14946729..14947608-chr5:15003318..15004150,4	MCF-7	breast:
12	chr5:14685519..14686385-chr5:15013737..15014695,6	MCF-7	breast:
13	chr5:15003279..15004151-chr5:15013861..15014603,2	MCF-7	breast:
14	chr5:14727225..14728004-chr5:15013759..15014615,2	MCF-7	breast:
15	chr5:15013716..15014586-chr5:15995299..15996216,2	MCF-7	breast:
16	chr5:14726225..14728660-chr5:15003605..15005990,2	K562	blood:
17	chr5:14398957..14399842-chr5:15013870..15014661,2	MCF-7	breast:
18	chr5:15009092..15011088-chr5:15012491..15014313,2	K562	blood:
19	chr5:14726726..14728232-chr5:15003215..15004674,9	MCF-7	breast:
20	chr5:14946629..14947384-chr5:15003311..15004216,3	K562	blood:
21	chr5:14727153..14728136-chr5:15013682..15014686,8	MCF-7	breast:
22	chr5:15003279..15004151-chr5:15013861..15014603,2	MCF-7	breast:
23	chr5:14946624..14947805-chr5:15003290..15004336,15	MCF-7	breast:
24	chr5:15003270..15003818-chr5:15013871..15014387,2	K562	blood:
25	chr5:14871760..14872688-chr5:15003430..15004136,2	MCF-7	breast:
26	chr5:14351922..14352869-chr5:15003308..15004252,4	K562	blood:
27	chr5:15003270..15003818-chr5:15013871..15014387,2	K562	blood:
28	chr5:15014377..15017867-chr5:15019671..15021896,3	MCF-7	breast:
29	chr5:14869840..14872190-chr5:15009649..15011300,2	MCF-7	breast:
30	chr5:14727422..14728137-chr5:15005847..15006529,2	K562	blood:
31	chr5:15003537..15006436-chr5:15007332..15010646,5	MCF-7	breast:
32	chr5:14727102..14728758-chr5:15003281..15004273,7	MCF-7	breast:
33	chr5:15009092..15011088-chr5:15012491..15014313,2	K562	blood:
34	chr5:15003537..15006436-chr5:15007332..15010646,5	MCF-7	breast:
35	chr5:14364227..14364864-chr5:15003325..15004131,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-3	chr5:14992843-14993054	XLOC_004300

No data

Variant related genes	Relation type
ENSG00000261360	chromatin interactions
ENSG00000154122	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000154124	chromatin interactions
ENSG00000272057	chromatin interactions

Extended variants
information (count: 1307 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1307 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1992707	chr5:14986700-14986701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79541150	chr5:14986701-14986702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191599205	chr5:14986758-14986759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184116251	chr5:14986770-14986771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116714369	chr5:14986786-14986787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565040706	chr5:14986794-14986795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532366904	chr5:14986795-14986796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs835066	chr5:14986922-14986923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188506886	chr5:14987012-14987013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181287231	chr5:14987030-14987031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548616870	chr5:14987043-14987044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368205449	chr5:14987048-14987049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185167720	chr5:14987063-14987064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527892076	chr5:14987077-14987078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4702066	chr5:14987113-14987114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557802672	chr5:14987188-14987189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370677305	chr5:14987219-14987220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4702067	chr5:14987263-14987264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567982226	chr5:14987268-14987269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370739577	chr5:14987294-14987295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368070324	chr5:14987337-14987338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553789527	chr5:14987368-14987369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571861172	chr5:14987403-14987404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545639369	chr5:14987404-14987405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59032577	chr5:14987406-14987407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79126914	chr5:14987411-14987412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190047086	chr5:14987422-14987423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544401878	chr5:14987435-14987436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16903768	chr5:14987451-14987452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146778593	chr5:14987461-14987462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148929612	chr5:14987511-14987512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560670760	chr5:14987551-14987552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527880003	chr5:14987586-14987587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552841935	chr5:14987589-14987590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143163675	chr5:14987638-14987639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111848906	chr5:14987669-14987670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549623022	chr5:14987698-14987699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113984413	chr5:14987710-14987711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535105498	chr5:14987715-14987716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117938275	chr5:14987737-14987738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201037214	chr5:14987745-14987746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182317309	chr5:14987750-14987751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561632659	chr5:14987771-14987772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539232912	chr5:14987779-14987780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557559173	chr5:14987795-14987796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575848050	chr5:14987797-14987798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141386703	chr5:14987800-14987801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556386994	chr5:14987803-14987804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56083839	chr5:14987807-14987808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559522219	chr5:14987809-14987810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14984200-14988200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:14984600-14988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:14985600-14992800	Weak transcription	Fetal Thymus	thymus
4	chr5:14985800-14992600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:14986200-14992400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:14988200-14988600	Enhancers	Duodenum Mucosa	Duodenum
7	chr5:14988200-14988800	Enhancers	Fetal Intestine Large	intestine
8	chr5:14988200-14989000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:14988400-14988800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:14988600-14992800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:14989000-14992800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:14990800-14991400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:14990800-14991600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:14992400-14992600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:14992400-14992600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:14992400-14992600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:14992400-14992800	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:14992400-14992800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:14992400-14992800	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:14992400-14992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:14992400-14992800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:14992400-14992800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:14992400-14992800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:14992400-14992800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:14992400-14992800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:14992400-14993000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:14992400-14993000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:14992600-14992800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:14992600-14992800	Enhancers	Primary T cells from cord blood	blood
30	chr5:14992600-14992800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr5:14992600-14992800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr5:14992600-14992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:14992600-14992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:14992600-14992800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:14992600-14992800	Enhancers	GM12878-XiMat	blood
36	chr5:14992600-14993000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr5:14992600-14993000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:14992600-14993200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:14992800-14993000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:14992800-14993000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:14992800-14993000	Enhancers	Placenta	Placenta
42	chr5:14992800-14993000	Enhancers	Fetal Thymus	thymus
43	chr5:14992800-14993000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:14992800-14993200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr5:14992800-14993200	Flanking Active TSS	GM12878-XiMat	blood
46	chr5:14992800-14993400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr5:14992800-14993400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:14992800-14993600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:14992800-14993600	Active TSS	Primary T cells from cord blood	blood
50	chr5:14992800-14993600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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