Variant report

Variant	nsv980559
Chromosome Location	chr5:37917870-37922753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:37918280-37918430	BE2_C	brain:	n/a	n/a
2	E2F4	chr5:37921669-37921869	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr5:37921567-37921918	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr5:37921586-37921895	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:37921577-37921920	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:37921549-37921937	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr5:37921681-37922024	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr5:37921597-37921918	NB4	blood:	n/a	n/a
9	MYC	chr5:37921639-37922165	MCF10A-Er-Src	breast:	n/a	n/a
10	SETDB1	chr5:37921623-37922005	U2OS	brain:	n/a	n/a
11	STAT3	chr5:37921639-37921875	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr5:37921680-37921888	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr5:37921597-37921941	MCF10A-Er-Src	breast:	n/a	n/a
14	ZC3H11A	chr5:37921883-37921915	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:37917797..37919563-chr5:37921139..37923191,2	MCF-7	breast:
2	chr5:37917797..37919563-chr5:37921139..37923191,2	MCF-7	breast:
3	chr5:37847283..37849747-chr5:37922255..37924001,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GDNF-1	chr5:37918311-37918924	NONHSAT101075
2	lnc-GDNF-1	chr5:37920056-37920199	XLOC_004788
3	lnc-GDNF-1	chr5:37920933-37920971	XLOC_004788
4	lnc-GDNF-1	chr5:37919842-37919892	NONHSAT101075
5	lnc-GDNF-1	chr5:37920056-37920148	NONHSAT101075
6	lnc-GDNF-1	chr5:37919842-37919892	XLOC_004788

No data

Variant related genes	Relation type
ENSG00000248539	TF binding region

Extended variants
information (count: 222 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559306280	chr5:37917871-37917872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145651914	chr5:37917887-37917888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56053960	chr5:37917918-37917919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575864428	chr5:37917991-37917992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10076420	chr5:37917997-37917998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530669911	chr5:37918004-37918005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149994278	chr5:37918018-37918019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542253666	chr5:37918024-37918025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139735966	chr5:37918089-37918090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187517098	chr5:37918109-37918110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76042028	chr5:37918119-37918120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377204242	chr5:37918156-37918157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557904124	chr5:37918174-37918175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546461920	chr5:37918175-37918176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369821689	chr5:37918186-37918187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73075575	chr5:37918215-37918216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532160652	chr5:37918249-37918250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1423434	chr5:37918253-37918254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569251022	chr5:37918279-37918280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536705765	chr5:37918297-37918298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78671305	chr5:37918303-37918304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147603517	chr5:37918324-37918325	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534203618	chr5:37918326-37918327	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559269868	chr5:37918363-37918364	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs192721855	chr5:37918444-37918445	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs533866131	chr5:37918464-37918465	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs577644174	chr5:37918548-37918549	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs538430309	chr5:37918565-37918566	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs71604883	chr5:37918597-37918598	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs113436700	chr5:37918598-37918599	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs199566525	chr5:37918614-37918615	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs10524180	chr5:37918620-37918621	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556762547	chr5:37918628-37918629	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574935439	chr5:37918629-37918630	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs139356800	chr5:37918630-37918631	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs556184022	chr5:37918649-37918650	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs2216712	chr5:37918703-37918704	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142168931	chr5:37918728-37918729	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs2194230	chr5:37918779-37918780	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs202002001	chr5:37918815-37918816	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs5867374	chr5:37918816-37918817	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs112704898	chr5:37918835-37918836	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs2194229	chr5:37918839-37918840	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1035500	chr5:37918856-37918857	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115454722	chr5:37918946-37918947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562663786	chr5:37918947-37918948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117049202	chr5:37918948-37918949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188047528	chr5:37918997-37918998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566997251	chr5:37918999-37919000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151165759	chr5:37919105-37919106	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19197363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37915400-37926400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:37916400-37919400	Weak transcription	Ovary	ovary
3	chr5:37917600-37919000	Enhancers	Fetal Heart	heart
4	chr5:37917800-37918200	Weak transcription	HMEC	breast
5	chr5:37918200-37918400	Enhancers	HMEC	breast
6	chr5:37918200-37919400	Enhancers	Colon Smooth Muscle	Colon
7	chr5:37918400-37919000	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:37918400-37926400	Weak transcription	HMEC	breast
9	chr5:37919000-37919200	Flanking Active TSS	Fetal Heart	heart
10	chr5:37919200-37919400	Enhancers	Fetal Heart	heart
11	chr5:37919400-37919600	Flanking Active TSS	Fetal Heart	heart
12	chr5:37919400-37919800	Enhancers	Ovary	ovary
13	chr5:37919400-37919800	Enhancers	Pancreas	Pancrea
14	chr5:37920600-37921000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:37920800-37921600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:37921400-37921600	Enhancers	Fetal Heart	heart

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