Variant report

Variant	nsv597332
Chromosome Location	chr5:17465110-17497648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:489)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:17492224-17492379	K562	blood:	n/a	n/a
2	CEBPB	chr5:17479590-17479792	HepG2	liver:	n/a	chr5:17479700-17479711
3	CEBPB	chr5:17486902-17487265	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:17479634-17479713	H1-hESC	embryonic stem cell:	n/a	chr5:17479700-17479711
5	CEBPB	chr5:17483315-17483373	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr5:17468461-17468498	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:17468443-17468530	GM19238	blood:	n/a	n/a
8	CTCF	chr5:17468380-17468610	GM12865	blood:	n/a	n/a
9	CTCF	chr5:17468469-17468528	MCF-7	breast:	n/a	n/a
10	CTCF	chr5:17468400-17468550	Caco-2	colon:	n/a	n/a
11	CTCF	chr5:17468470-17468546	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:17468315-17468678	GM12878	blood:	n/a	n/a
13	CTCF	chr5:17468481-17468544	GM10248	blood:	n/a	n/a
14	CTCF	chr5:17486619-17486669	Fibrobl	skin:	n/a	n/a
15	CTCF	chr5:17468454-17468538	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr5:17468445-17468539	GM19240	blood:	n/a	n/a
17	CTCF	chr5:17481780-17481930	A549	lung:	n/a	n/a
18	CTCF	chr5:17491694-17491823	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:17491692-17491836	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:17468460-17468610	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:17468420-17468570	A549	lung:	n/a	n/a
22	CTCF	chr5:17481862-17482016	Gliobla	brain:	n/a	n/a
23	CTCF	chr5:17468260-17468410	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:17481912-17482004	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:17468380-17468530	GM12865	blood:	n/a	n/a
26	CTCF	chr5:17481912-17481950	Medullo	brain:	n/a	n/a
27	CTCF	chr5:17475913-17475990	LNCaP	prostate:	n/a	n/a
28	CTCF	chr5:17473433-17473489	GM13976	blood:	n/a	n/a
29	CTCF	chr5:17468453-17468523	GM10266	blood:	n/a	n/a
30	CTCF	chr5:17468500-17468650	GM12864	blood:	n/a	n/a
31	CTCF	chr5:17468429-17468583	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:17468421-17468568	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:17468420-17468570	AG09319	gingival:	n/a	n/a
34	CTCF	chr5:17468420-17468570	AG09309	skin:	n/a	n/a
35	CTCF	chr5:17474094-17474165	GM10248	blood:	n/a	n/a
36	CTCF	chr5:17481780-17481930	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:17468420-17468570	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr5:17481740-17481890	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr5:17468474-17468541	GM13976	blood:	n/a	n/a
40	CTCF	chr5:17495120-17495270	Caco-2	colon:	n/a	n/a
41	CTCF	chr5:17468447-17468543	GM12878	blood:	n/a	n/a
42	CTCF	chr5:17468520-17468670	AG04449	skin:	n/a	n/a
43	CTCF	chr5:17481840-17481990	BE2_C	brain:	n/a	n/a
44	CTCF	chr5:17481860-17482010	Caco-2	colon:	n/a	n/a
45	CTCF	chr5:17468539-17468541	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr5:17481700-17481850	A549	lung:	n/a	n/a
47	CTCF	chr5:17468447-17468560	NHEK	skin:	n/a	n/a
48	CTCF	chr5:17468428-17468576	GM12892	blood:	n/a	n/a
49	CTCF	chr5:17468340-17468490	AG10803	skin:	n/a	n/a
50	CTCF	chr5:17468405-17468580	GM19239	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17491941-17491991	Caco-2	colon:	n/a
2	chr5:17491941-17491991	Caco-2	colon:	n/a
3	chr5:17495781-17495831	SK-N-SH_RA	brain:	n/a
4	chr5:17491469-17491519	T-47D	breast:	n/a
5	chr5:17488879-17488929	PrEC	prostate:	n/a
6	chr5:17491586-17491636	SAEC	small airway:	n/a
7	chr5:17485435-17485485	HEK293	kidney:	embryo
8	chr5:17490778-17490828	GM12878	blood:	n/a
9	chr5:17491604-17491654	ovcar-3	ovarian:	n/a
10	chr5:17491586-17491636	Caco-2	colon:	n/a
11	chr5:17491586-17491636	NHDF-neo	bronchial:	n/a
12	chr5:17491604-17491654	AG09319	gingival:	n/a
13	chr5:17485435-17485485	HCPEpiC	choroid plexus:	n/a
14	chr5:17491941-17491991	AG09319	gingival:	n/a
15	chr5:17495781-17495831	HRPEpiC	eye:	n/a
16	chr5:17488879-17488929	HEEpiC	esophagus:	n/a
17	chr5:17491469-17491519	CMK	blood:	n/a
18	chr5:17495781-17495831	GM12891	blood:	n/a
19	chr5:17490778-17490828	HEEpiC	esophagus:	n/a
20	chr5:17485435-17485485	H1-hESC	embryonic stem cell:	embryo
21	chr5:17491941-17491991	NH-A	brain:	n/a
22	chr5:17490778-17490828	HUVEC	blood vessel:	n/a
23	chr5:17491469-17491519	HCPEpiC	choroid plexus:	n/a
24	chr5:17488879-17488929	BE2_C	brain:	n/a
25	chr5:17491586-17491636	SK-N-SH_RA	brain:	n/a
26	chr5:17495781-17495831	AG04449	skin:	fetal
27	chr5:17491469-17491519	NB4	blood:	n/a
28	chr5:17491586-17491636	H1-hESC	embryonic stem cell:	embryo
29	chr5:17485435-17485485	ProgFib	skin:	n/a
30	chr5:17485435-17485485	HAEpiC	amniotic membrane:	n/a
31	chr5:17491941-17491991	U87	brain:	n/a
32	chr5:17491586-17491636	HNPCEpiC	eye:	n/a
33	chr5:17485435-17485485	HNPCEpiC	eye:	n/a
34	chr5:17495781-17495831	PANC-1	pancreas:	n/a
35	chr5:17495781-17495831	NHBE	bronchial:	n/a
36	chr5:17488879-17488929	ECC-1	luminal epithelium:	n/a
37	chr5:17490778-17490828	Hepatocyte	liver:	n/a
38	chr5:17495781-17495831	Jurkat	blood:	n/a
39	chr5:17491469-17491519	HPAEpiC	pulmonary alveolar:	n/a
40	chr5:17491469-17491519	MCF-7	breast:	n/a
41	chr5:17491586-17491636	HCF	heart:	n/a
42	chr5:17485435-17485485	T-47D	breast:	n/a
43	chr5:17490778-17490828	MCF10A-Er-Src	breast:	n/a
44	chr5:17485435-17485485	CMK	blood:	n/a
45	chr5:17491469-17491519	AG10803	skin:	n/a
46	chr5:17488879-17488929	A549	lung:	n/a
47	chr5:17485435-17485485	HRCEpiC	kidney:	n/a
48	chr5:17491586-17491636	GM06990	blood:	n/a
49	chr5:17491586-17491636	AG04450	lung:	fetal
50	chr5:17488879-17488929	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
2	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
3	chr5:17482145..17483996-chr5:17485919..17488626,2	MCF-7	breast:
4	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
5	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
6	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-4	chr5:17485639-17485937	XLOC_004309
2	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain
3	lnc-BASP1-11	chr5:17465001-17465207	l_2885_chr5:17456969-17494846_brain
4	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
5	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
6	lnc-BASP1-4	chr5:17483841-17484055	XLOC_004309

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
ENSG00000268799	TF binding region
ENSG00000250667	TF binding region
ENSG00000185041	TF binding region
ENSG00000251304	CpG island
ENSG00000268799	CpG island
ENSG00000250667	CpG island
ENSG00000185041	CpG island
ENSG00000268799	chromatin interactions
ENSG00000251304	chromatin interactions
ENSG00000250667	chromatin interactions

Extended variants
information (count: 885 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565691026	chr5:17465196-17465197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs551167264	chr5:17465825-17465826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571355033	chr5:17465867-17465868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189731744	chr5:17465877-17465878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369194864	chr5:17465885-17465886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573886553	chr5:17465926-17465927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536512998	chr5:17465941-17465942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553342762	chr5:17465988-17465989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78118807	chr5:17466026-17466027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77964986	chr5:17466056-17466057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558764199	chr5:17466093-17466094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575658808	chr5:17466145-17466146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554976019	chr5:17466161-17466162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544321689	chr5:17466229-17466230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566898277	chr5:17466236-17466237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561098206	chr5:17466244-17466245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530239662	chr5:17466261-17466262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540522185	chr5:17466302-17466303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560869571	chr5:17466325-17466326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6895907	chr5:17466379-17466380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528059800	chr5:17466415-17466416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146056317	chr5:17466431-17466432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181784657	chr5:17466492-17466493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534810600	chr5:17466520-17466521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536190054	chr5:17466557-17466558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527667753	chr5:17469410-17469411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187722839	chr5:17469434-17469435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374305081	chr5:17469462-17469463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2459789	chr5:17469464-17469465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533220935	chr5:17469501-17469502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144987784	chr5:17469515-17469516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559493530	chr5:17469516-17469517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536102789	chr5:17469568-17469569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556073660	chr5:17469600-17469601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192404897	chr5:17469624-17469625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114758326	chr5:17469643-17469644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184305935	chr5:17469685-17469686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17709912	chr5:17469690-17469691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35138387	chr5:17469750-17469751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369477488	chr5:17469780-17469781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555889211	chr5:17469798-17469799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188112557	chr5:17469815-17469816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149347118	chr5:17469825-17469826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566315119	chr5:17469828-17469829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561933249	chr5:17469843-17469844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575534070	chr5:17469871-17469872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527411933	chr5:17469875-17469876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144175227	chr5:17469929-17469930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74583738	chr5:17469944-17469945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114312797	chr5:17469955-17469956	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17465800-17466600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:17469400-17470000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:17475000-17475800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:17475800-17476200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:17475800-17476400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:17475800-17476400	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:17476200-17478800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:17476400-17486200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:17480600-17480800	Enhancers	Fetal Kidney	kidney
10	chr5:17481400-17481600	Enhancers	Fetal Kidney	kidney
11	chr5:17481400-17482000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:17481400-17482000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:17481400-17482000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:17481400-17482000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:17481400-17482000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:17481400-17482200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:17481400-17483000	Enhancers	A549	lung
18	chr5:17481600-17481800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:17481600-17482000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:17481600-17482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:17481600-17482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:17483000-17487000	Weak transcription	A549	lung
23	chr5:17486200-17487800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:17487000-17487600	Enhancers	A549	lung
25	chr5:17487200-17487400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:17487200-17487600	Enhancers	Hela-S3	cervix
27	chr5:17487400-17488200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:17488200-17489000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:17494400-17496200	Enhancers	Primary neutrophils fromperipheralblood	blood

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