Variant report

Variant	nsv597221
Chromosome Location	chr5:12879073-12928437
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:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12891172..12893913-chr5:12911887..12913752,2	MCF-7	breast:
2	chr5:12905380..12908078-chr5:12909693..12911968,2	MCF-7	breast:
3	chr5:12905986..12907777-chr5:12907852..12910018,2	MCF-7	breast:
4	chr5:12926968..12928704-chr5:12928938..12931833,2	MCF-7	breast:
5	chr5:12905380..12908078-chr5:12909693..12911968,2	MCF-7	breast:
6	chr5:12869277..12872072-chr5:12892100..12894392,2	K562	blood:
7	chr5:12905986..12907777-chr5:12907852..12910018,2	MCF-7	breast:
8	chr5:12891172..12893913-chr5:12911887..12913752,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH5-8	chr5:12902058-12902176	NONHSAT100521
2	lnc-DNAH5-1	chr5:12914180-12914283	XLOC_004738
3	lnc-DNAH5-8	chr5:12888100-12888396	NONHSAT100521

No data

Extended variants
information (count: 303 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193200511	chr5:12883201-12883202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146304369	chr5:12883224-12883225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544518667	chr5:12883231-12883232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139556475	chr5:12883285-12883286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368294776	chr5:12883326-12883327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546826984	chr5:12883382-12883383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71601441	chr5:12883469-12883470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182524578	chr5:12883473-12883474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530036872	chr5:12883476-12883477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71601442	chr5:12883480-12883481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113016497	chr5:12883482-12883483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553567499	chr5:12883497-12883498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373060313	chr5:12883498-12883499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377258783	chr5:12883501-12883502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71188017	chr5:12883502-12883503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374343943	chr5:12883503-12883504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200670506	chr5:12883508-12883509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201993971	chr5:12883515-12883516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188488905	chr5:12883543-12883544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545434642	chr5:12883548-12883549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146099759	chr5:12883592-12883593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113671379	chr5:12883594-12883595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377050561	chr5:12883690-12883691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527818456	chr5:12883789-12883790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192733090	chr5:12883862-12883863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183907949	chr5:12883872-12883873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540861619	chr5:12883873-12883874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532303819	chr5:12883913-12883914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112494474	chr5:12883930-12883931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4501340	chr5:12883932-12883933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188295479	chr5:12883935-12883936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554647449	chr5:12883955-12883956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566440647	chr5:12883979-12883980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150976852	chr5:12884007-12884008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140885257	chr5:12884020-12884021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374989994	chr5:12884037-12884038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144475845	chr5:12884085-12884086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556334565	chr5:12884138-12884139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574833450	chr5:12884170-12884171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180817200	chr5:12884178-12884179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376261679	chr5:12884209-12884210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17235944	chr5:12884224-12884225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561188957	chr5:12884230-12884231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527659358	chr5:12884253-12884254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545997039	chr5:12884273-12884274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141178685	chr5:12884327-12884328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532213889	chr5:12884352-12884353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531523131	chr5:12884403-12884404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146925937	chr5:12884443-12884444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs137989472	chr5:12884471-12884472	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	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
Bipolar disorder	19114987	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12883200-12884000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:12883200-12884000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:12883600-12884000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:12883600-12884000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:12883600-12884200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:12883600-12885200	Enhancers	Adipose Nuclei	Adipose
7	chr5:12885000-12885400	Enhancers	Fetal Brain Female	brain
8	chr5:12901600-12902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:12901600-12902200	Enhancers	HMEC	breast
10	chr5:12901800-12902200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:12904000-12904600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:12904000-12904600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:12910200-12911800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:12910400-12912600	Enhancers	HUVEC	blood vessel
15	chr5:12910600-12910800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:12910800-12911200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:12911000-12911600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:12911200-12911400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:12911400-12911600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:12913400-12913800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr5:12920200-12921000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:12920600-12921200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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