Variant report

Variant	nsv881654
Chromosome Location	chr5:12892365-12975063
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12905986..12907777-chr5:12907852..12910018,2	MCF-7	breast:
2	chr5:12905380..12908078-chr5:12909693..12911968,2	MCF-7	breast:
3	chr17:8102198..8104070-chr5:12974517..12976038,2	K562	blood:
4	chr5:12292338..12293040-chr5:12945678..12946232,2	MCF-7	breast:
5	chr5:12935233..12936336-chr5:13218431..13219324,3	MCF-7	breast:
6	chr5:12905380..12908078-chr5:12909693..12911968,2	MCF-7	breast:
7	chr5:12891172..12893913-chr5:12911887..12913752,2	MCF-7	breast:
8	chr5:12891172..12893913-chr5:12911887..12913752,2	MCF-7	breast:
9	chr5:12869277..12872072-chr5:12892100..12894392,2	K562	blood:
10	chr5:12926968..12928704-chr5:12928938..12931833,2	MCF-7	breast:
11	chr5:12926968..12928704-chr5:12928938..12931833,2	MCF-7	breast:
12	chr5:12935618..12936488-chr5:13478378..13479380,3	MCF-7	breast:
13	chr5:12905986..12907777-chr5:12907852..12910018,2	MCF-7	breast:

(count:2 , 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

No data

Variant related genes	Relation type
ENSG00000271002	chromatin interactions

Extended variants
information (count: 925 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575927912	chr5:12901607-12901608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533917518	chr5:12901656-12901657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542916729	chr5:12901678-12901679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560967906	chr5:12901687-12901688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147640590	chr5:12901694-12901695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540336894	chr5:12901814-12901815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142007484	chr5:12901834-12901835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532493312	chr5:12901835-12901836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551578442	chr5:12901850-12901851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145757138	chr5:12901862-12901863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530858103	chr5:12901863-12901864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138731155	chr5:12901904-12901905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574735369	chr5:12901910-12901911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375689389	chr5:12902007-12902008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189331878	chr5:12902030-12902031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181944242	chr5:12902058-12902059	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs187029494	chr5:12902132-12902133	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191456259	chr5:12902141-12902142	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376170579	chr5:12902171-12902172	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563590949	chr5:12902188-12902189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34320505	chr5:12904005-12904006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140211236	chr5:12904087-12904088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562127058	chr5:12904116-12904117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376818518	chr5:12904118-12904119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529753585	chr5:12904178-12904179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547355590	chr5:12904201-12904202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201237716	chr5:12904253-12904254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375721230	chr5:12904254-12904255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547836523	chr5:12904257-12904258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560324473	chr5:12904330-12904331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368575723	chr5:12904331-12904332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527923475	chr5:12904365-12904366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552736587	chr5:12904427-12904428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533301494	chr5:12904440-12904441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372299894	chr5:12904467-12904468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183646058	chr5:12904492-12904493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538514940	chr5:12904525-12904526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188013482	chr5:12904563-12904564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150331862	chr5:12904567-12904568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144947241	chr5:12904576-12904577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185891893	chr5:12910207-12910208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191990923	chr5:12910271-12910272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369453412	chr5:12910345-12910346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35236782	chr5:12910347-12910348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397804733	chr5:12910356-12910357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543795462	chr5:12910364-12910365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562289364	chr5:12910371-12910372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577537348	chr5:12910409-12910410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149504710	chr5:12910427-12910428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542075300	chr5:12910444-12910445	Enhancers	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12901600-12902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:12901600-12902200	Enhancers	HMEC	breast
3	chr5:12901800-12902200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:12904000-12904600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:12904000-12904600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:12910200-12911800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:12910400-12912600	Enhancers	HUVEC	blood vessel
8	chr5:12910600-12910800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:12910800-12911200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:12911000-12911600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:12911200-12911400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:12911400-12911600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:12913400-12913800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr5:12920200-12921000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:12920600-12921200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:12934600-12935800	Enhancers	HMEC	breast
17	chr5:12935000-12935400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:12935000-12935400	Enhancers	Esophagus	oesophagus
19	chr5:12935000-12935800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:12935000-12937200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:12935200-12935600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:12935200-12935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:12935200-12936000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:12935800-12936800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:12938000-12938400	ZNF genes & repeats	Gastric	stomach
26	chr5:12942800-12943200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:12942800-12943400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:12943000-12943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:12943000-12943400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:12943400-12944400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:12944400-12944600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:12944600-12944800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:12947600-12948200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:12952000-12952400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:12952400-12957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:12957200-12958400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:12957400-12958400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:12957400-12958600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:12957400-12958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:12957400-12958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:12957600-12958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:12957600-12958400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:12957600-12958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:12957800-12958200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:12958600-12959000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:12959800-12960200	Enhancers	Adipose Nuclei	Adipose
47	chr5:12971200-12975200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:12974000-12974800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:12974200-12975400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:12974600-12976000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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