Variant report

Variant	nsv520304
Chromosome Location	chr5:12975063-13032839
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12998465..13001309-chr5:13002975..13005626,3	MCF-7	breast:
2	chr5:12995835..12998123-chr5:13034402..13037051,2	MCF-7	breast:
3	chr5:13005667..13007394-chr5:13011256..13013140,2	MCF-7	breast:
4	chr17:8102198..8104070-chr5:12974517..12976038,2	K562	blood:
5	chr5:12997159..12998726-chr5:13000905..13002820,2	MCF-7	breast:
6	chr5:13005667..13007394-chr5:13011256..13013140,2	MCF-7	breast:
7	chr5:12998465..13001309-chr5:13002975..13005626,3	MCF-7	breast:
8	chr5:12997159..12998726-chr5:13000905..13002820,2	MCF-7	breast:
9	chr5:13022786..13025685-chr5:13031355..13034091,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH5-1	chr5:13032123-13032187	XLOC_004738

No data

Variant related genes	Relation type
ENSG00000248457	chromatin interactions
ENSG00000271002	chromatin interactions

Extended variants
information (count: 388 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2118584	chr5:12975063-12975064	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371399293	chr5:12975073-12975074	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1017451	chr5:12975108-12975109	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572555476	chr5:12975121-12975122	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141711983	chr5:12975135-12975136	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1017452	chr5:12975187-12975188	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556395839	chr5:12975260-12975261	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1017453	chr5:12975265-12975266	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535398623	chr5:12975285-12975286	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1017454	chr5:12975322-12975323	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs572223756	chr5:12975323-12975324	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368021996	chr5:12975325-12975326	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147115747	chr5:12975368-12975369	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138523756	chr5:12975375-12975376	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181579623	chr5:12975378-12975379	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561967480	chr5:12975402-12975403	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185740484	chr5:12975407-12975408	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547661621	chr5:12975467-12975468	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149567262	chr5:12975474-12975475	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533448447	chr5:12975478-12975479	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144252498	chr5:12975532-12975533	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190202498	chr5:12975549-12975550	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570017065	chr5:12975561-12975562	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537564337	chr5:12975596-12975597	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549461859	chr5:12975606-12975607	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532462206	chr5:12975611-12975612	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567636183	chr5:12975682-12975683	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113344301	chr5:12975696-12975697	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372757933	chr5:12975750-12975751	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs70962028	chr5:12975768-12975769	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199725960	chr5:12975770-12975771	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113803198	chr5:12975774-12975775	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141493527	chr5:12975794-12975795	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146330385	chr5:12975799-12975800	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374183275	chr5:12975809-12975810	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377487370	chr5:12975824-12975825	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541087737	chr5:12975825-12975826	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539309540	chr5:12975846-12975847	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559612032	chr5:12975866-12975867	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370650057	chr5:12975868-12975869	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530497232	chr5:12975871-12975872	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557336564	chr5:12975933-12975934	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs17237639	chr5:12975934-12975935	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543130049	chr5:12975950-12975951	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561482023	chr5:12975957-12975958	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139920518	chr5:12976007-12976008	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183172261	chr5:12976076-12976077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79694135	chr5:12976178-12976179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141079297	chr5:12976179-12976180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34497638	chr5:12976180-12976181	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12971200-12975200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:12974200-12975400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:12974600-12976000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:12974800-12975600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:12975200-12977000	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:12975400-12975800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:12975600-12977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:12975800-12977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:12983000-12983400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:12989800-12990200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:13002000-13002400	Enhancers	Adipose Nuclei	Adipose
12	chr5:13002400-13003200	Weak transcription	Adipose Nuclei	Adipose
13	chr5:13003200-13003600	Enhancers	Adipose Nuclei	Adipose
14	chr5:13003600-13003800	Weak transcription	Adipose Nuclei	Adipose
15	chr5:13003800-13004600	Enhancers	Adipose Nuclei	Adipose
16	chr5:13005000-13005600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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