Variant report

Variant	nsv1027319
Chromosome Location	chr5:7963460-7989659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:7971805-7971940	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:7976562-7976765	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:7966893-7967319	A549	lung:	n/a	chr5:7966903-7966915
4	CEBPB	chr5:7967088-7967288	HepG2	liver:	n/a	n/a
5	CTCF	chr5:7973247-7973272	Spleen_OC	spleen:	n/a	n/a
6	ELK1	chr5:7971157-7971205	GM12878	blood:	n/a	n/a
7	IRF1	chr5:7965501-7965529	K562	blood:	n/a	n/a
8	IRF1	chr5:7968940-7968954	K562	blood:	n/a	n/a
9	MAFK	chr5:7980232-7980512	HepG2	liver:	n/a	chr5:7980333-7980348
10	MAFK	chr5:7980296-7980394	HepG2	liver:	n/a	chr5:7980333-7980348
11	MAZ	chr5:7971228-7971242	GM12878	blood:	n/a	n/a
12	MEF2A	chr5:7970984-7971463	GM12878	blood:	n/a	chr5:7971299-7971314 chr5:7971299-7971314
13	NRF1	chr5:7969803-7969859	K562	blood:	n/a	n/a
14	POLR2A	chr5:7982338-7982440	A549	lung:	n/a	n/a
15	POLR2A	chr5:7969232-7969426	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:7988532-7988608	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:7980997-7981268	MCF10A-Er-Src	breast:	n/a	n/a
18	RFX5	chr5:7989073-7989193	K562	blood:	n/a	n/a
19	SPI1	chr5:7974753-7974864	K562	blood:	n/a	n/a
20	SPI1	chr5:7970842-7971306	GM12891	blood:	n/a	chr5:7971127-7971136 chr5:7971128-7971135 chr5:7971123-7971132
21	SPI1	chr5:7970888-7971318	GM12891	blood:	n/a	chr5:7971127-7971136 chr5:7971128-7971135 chr5:7971123-7971132
22	SPI1	chr5:7970810-7971361	GM12878	blood:	n/a	chr5:7971127-7971136 chr5:7971128-7971135 chr5:7971123-7971132
23	STAT3	chr5:7968852-7969013	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr5:7965939-7966465	MCF10A-Er-Src	breast:	n/a	chr5:7966075-7966083
25	TAL1	chr5:7988574-7988734	K562	blood:	n/a	n/a
26	TCF7L2	chr5:7968077-7968126	Hela-S3	cervix:	n/a	n/a
27	YY1	chr5:7987250-7987393	K562	blood:	n/a	n/a
28	ZNF384	chr5:7971036-7971366	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:7983594-7983644	HEEpiC	esophagus:	n/a
2	chr5:7983865-7983915	K562	blood:	n/a
3	chr5:7983594-7983644	AG10803	skin:	n/a
4	chr5:7983594-7983644	Caco-2	colon:	n/a
5	chr5:7983865-7983915	HIPEpiC	eye:	n/a
6	chr5:7983865-7983915	PFSK-1	brain:	n/a
7	chr5:7983865-7983915	Hela-S3	cervix:	n/a
8	chr5:7983756-7983806	SAEC	small airway:	n/a
9	chr5:7983756-7983806	SK-N-SH_RA	brain:	n/a
10	chr5:7983865-7983915	NT2-D1	testis:	n/a
11	chr5:7983865-7983915	RPTEC	kidney:	n/a
12	chr5:7983594-7983644	PrEC	prostate:	n/a
13	chr5:7983756-7983806	T-47D	breast:	n/a
14	chr5:7983865-7983915	HRCEpiC	kidney:	n/a
15	chr5:7983756-7983806	HCT-116	colon:	n/a
16	chr5:7983594-7983644	HRCEpiC	kidney:	n/a
17	chr5:7983756-7983806	AG09309	skin:	n/a
18	chr5:7983756-7983806	HMEC	breast:	n/a
19	chr5:7983594-7983644	HPAEpiC	pulmonary alveolar:	n/a
20	chr5:7983756-7983806	HRCEpiC	kidney:	n/a
21	chr5:7983756-7983806	U87	brain:	n/a
22	chr5:7983594-7983644	HEK293	kidney:	embryo
23	chr5:7983756-7983806	Caco-2	colon:	n/a
24	chr5:7983865-7983915	AG09309	skin:	n/a
25	chr5:7983756-7983806	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:7983756-7983806	HAEpiC	amniotic membrane:	n/a
27	chr5:7983756-7983806	LNCaP	prostate:	n/a
28	chr5:7983594-7983644	GM12892	blood:	n/a
29	chr5:7983594-7983644	PFSK-1	brain:	n/a
30	chr5:7983756-7983806	HCM	heart:	n/a
31	chr5:7983756-7983806	GM12892	blood:	n/a
32	chr5:7983756-7983806	BE2_C	brain:	n/a
33	chr5:7983865-7983915	NH-A	brain:	n/a
34	chr5:7983756-7983806	PrEC	prostate:	n/a
35	chr5:7983756-7983806	ovcar-3	ovarian:	n/a
36	chr5:7983865-7983915	AG09319	gingival:	n/a
37	chr5:7983865-7983915	HCPEpiC	choroid plexus:	n/a
38	chr5:7983865-7983915	Jurkat	blood:	n/a
39	chr5:7983594-7983644	NHBE	bronchial:	n/a
40	chr5:7983594-7983644	AG09309	skin:	n/a
41	chr5:7983865-7983915	HCM	heart:	n/a
42	chr5:7983865-7983915	SKMC	muscle:	n/a
43	chr5:7983865-7983915	AG04449	skin:	fetal
44	chr5:7983594-7983644	AG04449	skin:	fetal
45	chr5:7983865-7983915	NHBE	bronchial:	n/a
46	chr5:7983756-7983806	ProgFib	skin:	n/a
47	chr5:7983865-7983915	IMR90	lung:	fetal
48	chr5:7983756-7983806	HEK293	kidney:	embryo
49	chr5:7983756-7983806	AG04449	skin:	fetal
50	chr5:7983756-7983806	HL-60	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:7966941..7969207-chr5:7969497..7971069,2	K562	blood:
2	chr5:7984088..7985699-chr5:7987914..7990259,2	K562	blood:
3	chr5:7984088..7985699-chr5:7987914..7990259,2	K562	blood:
4	chr5:7966941..7969207-chr5:7969497..7971069,2	K562	blood:

No data

Variant related genes	Relation type
RNU1-76P	TF binding region
RNU1-76P	CpG island

Extended variants
information (count: 564 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148787927	chr5:7968023-7968024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532507273	chr5:7968038-7968039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552641877	chr5:7968041-7968042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566173005	chr5:7968059-7968060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71604195	chr5:7968084-7968085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs162443	chr5:7968129-7968130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6889013	chr5:7968188-7968189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs162444	chr5:7968199-7968200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6884685	chr5:7968205-7968206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147496930	chr5:7968207-7968208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56404070	chr5:7968212-7968213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370440788	chr5:7968226-7968227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56308771	chr5:7968227-7968228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552577155	chr5:7968251-7968252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6866880	chr5:7968264-7968265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550067665	chr5:7968383-7968384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6868340	chr5:7968419-7968420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186707174	chr5:7968421-7968422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544083782	chr5:7968447-7968448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376719532	chr5:7968457-7968458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77400341	chr5:7968501-7968502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578030825	chr5:7968544-7968545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75084159	chr5:7968621-7968622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140410327	chr5:7968626-7968627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528510782	chr5:7968635-7968636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1011917	chr5:7968738-7968739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs386685210	chr5:7968747-7968748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553360592	chr5:7968750-7968751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3068924	chr5:7968757-7968758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199587656	chr5:7968761-7968762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200842159	chr5:7968762-7968763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375764844	chr5:7968765-7968766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181876792	chr5:7968776-7968777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144350360	chr5:7968786-7968787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550940719	chr5:7968820-7968821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151168945	chr5:7968830-7968831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186157142	chr5:7968840-7968841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1011918	chr5:7968842-7968843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542669544	chr5:7968872-7968873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140121608	chr5:7968881-7968882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9313215	chr5:7968886-7968887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112907261	chr5:7968896-7968897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555397877	chr5:7968899-7968900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575282330	chr5:7968918-7968919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375561716	chr5:7968951-7968952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113073171	chr5:7968975-7968976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577987282	chr5:7969057-7969058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115017456	chr5:7969069-7969070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549354681	chr5:7969077-7969078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560470795	chr5:7969091-7969092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7968000-7968200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:7968200-7975400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:7970600-7971800	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:7970800-7971600	Enhancers	GM12878-XiMat	blood
5	chr5:7970800-7972000	Enhancers	Primary B cells from cord blood	blood
6	chr5:7975000-7975600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:7975400-7976200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:7975400-7976200	Enhancers	Pancreas	Pancrea
9	chr5:7975600-7977600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:7975800-7979400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:7976000-7976800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:7976400-7976800	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:7976400-7977600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:7977600-7979600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:7978000-7978800	Enhancers	NH-A	brain
16	chr5:7978400-7979000	Enhancers	Ovary	ovary
17	chr5:7980600-7981600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:7982200-7982800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:7988600-7988800	Enhancers	K562	blood
20	chr5:7988800-7991200	Weak transcription	K562	blood

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