Variant report

Variant	nsv533704
Chromosome Location	chr14:19376792-19434604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:19422660-19422810	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr14:19433560-19433710	Caco-2	colon:	n/a	n/a
3	CTCF	chr14:19421682-19421811	MCF-7	breast:	n/a	chr14:19421768-19421786 chr14:19421768-19421781 chr14:19421769-19421785 chr14:19421770-19421791 chr14:19421771-19421784
4	CTCF	chr14:19393147-19393287	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr14:19433620-19433770	A549	lung:	n/a	n/a
6	CTCF	chr14:19433536-19433836	K562	blood:	n/a	n/a
7	CTCF	chr14:19433560-19433710	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:19393115-19393321	LNCaP	prostate:	n/a	n/a
9	CTCF	chr14:19393033-19393400	K562	blood:	n/a	n/a
10	CTCF	chr14:19407747-19407987	A549	lung:	n/a	n/a
11	CTCF	chr14:19414111-19414176	GM10248	blood:	n/a	n/a
12	CTCF	chr14:19422629-19422908	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:19433580-19433730	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:19422668-19422946	K562	blood:	n/a	n/a
15	CTCF	chr14:19393519-19393611	A549	lung:	n/a	n/a
16	CTCF	chr14:19393010-19393378	A549	lung:	n/a	n/a
17	CTCF	chr14:19421674-19421788	MCF-7	breast:	n/a	chr14:19421768-19421786 chr14:19421768-19421781 chr14:19421769-19421785 chr14:19421771-19421784
18	CTCF	chr14:19393162-19393281	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr14:19393162-19393294	LNCaP	prostate:	n/a	n/a
20	CTCF	chr14:19404984-19404999	Medullo	brain:	n/a	n/a
21	CTCF	chr14:19408475-19408480	GM10248	blood:	n/a	n/a
22	CTCF	chr14:19411446-19411449	A549	lung:	n/a	n/a
23	CTCF	chr14:19392910-19393469	A549	lung:	n/a	n/a
24	CTCF	chr14:19393051-19393418	K562	blood:	n/a	n/a
25	CTCF	chr14:19433560-19433710	HepG2	liver:	n/a	n/a
26	CTCF	chr14:19422778-19422852	LNCaP	prostate:	n/a	n/a
27	CTCF	chr14:19393007-19393424	A549	lung:	n/a	n/a
28	CTCF	chr14:19422635-19423093	K562	blood:	n/a	n/a
29	CTCF	chr14:19422720-19422870	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr14:19393052-19393293	K562	blood:	n/a	n/a
31	CTCF	chr14:19379050-19379121	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr14:19411406-19411440	A549	lung:	n/a	n/a
33	CTCF	chr14:19433580-19433730	HEK293	kidney:	n/a	n/a
34	CTCF	chr14:19429545-19429609	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr14:19400520-19400670	GM12869	blood:	n/a	n/a
36	CTCF	chr14:19400940-19401090	GM12869	blood:	n/a	n/a
37	ELF1	chr14:19433626-19433790	K562	blood:	n/a	chr14:19433694-19433707
38	EP300	chr14:19415517-19415760	GM12878	blood:	n/a	n/a
39	EP300	chr14:19397161-19397334	GM12878	blood:	n/a	n/a
40	FOSL2	chr14:19391896-19392284	HepG2	liver:	n/a	n/a
41	FOSL2	chr14:19425156-19425416	HepG2	liver:	n/a	n/a
42	FOSL2	chr14:19411330-19411588	HepG2	liver:	n/a	n/a
43	FOSL2	chr14:19393004-19393309	HepG2	liver:	n/a	n/a
44	FOXA1	chr14:19418833-19419272	HepG2	liver:	n/a	chr14:19419182-19419194
45	FOXA1	chr14:19425427-19425807	HepG2	liver:	n/a	n/a
46	IRF1	chr14:19432624-19433396	K562	blood:	n/a	n/a
47	IRF1	chr14:19432942-19433420	K562	blood:	n/a	n/a
48	JUN	chr14:19434247-19434590	K562	blood:	n/a	n/a
49	JUN	chr14:19432974-19433521	K562	blood:	n/a	n/a
50	JUND	chr14:19411394-19411607	HepG2	liver:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19377109-19377159	IMR90	lung:	fetal
2	chr14:19377109-19377159	IMR90	lung:	fetal
3	chr14:19421688-19421738	HCPEpiC	choroid plexus:	n/a
4	chr14:19421688-19421738	RPTEC	kidney:	n/a
5	chr14:19422337-19422387	HRCEpiC	kidney:	n/a
6	chr14:19377109-19377159	PANC-1	pancreas:	n/a
7	chr14:19422337-19422387	BJ	skin:	n/a
8	chr14:19402845-19402895	AG04450	lung:	fetal
9	chr14:19413192-19413242	A549	lung:	n/a
10	chr14:19377109-19377159	NB4	blood:	n/a
11	chr14:19422337-19422387	PFSK-1	brain:	n/a
12	chr14:19421688-19421738	ECC-1	luminal epithelium:	n/a
13	chr14:19413192-19413242	Hepatocyte	liver:	n/a
14	chr14:19402845-19402895	HRE	kidney:	n/a
15	chr14:19421688-19421738	HRCEpiC	kidney:	n/a
16	chr14:19422337-19422387	SK-N-MC	brain:	n/a
17	chr14:19377109-19377159	H1-hESC	embryonic stem cell:	embryo
18	chr14:19377109-19377159	Caco-2	colon:	n/a
19	chr14:19413192-19413242	SK-N-SH	brain:	n/a
20	chr14:19422337-19422387	NHBE	bronchial:	n/a
21	chr14:19402845-19402895	HPAEpiC	pulmonary alveolar:	n/a
22	chr14:19421688-19421738	AG10803	skin:	n/a
23	chr14:19377109-19377159	LNCaP	prostate:	n/a
24	chr14:19402845-19402895	HEEpiC	esophagus:	n/a
25	chr14:19413192-19413242	SK-N-MC	brain:	n/a
26	chr14:19402845-19402895	H1-hESC	embryonic stem cell:	embryo
27	chr14:19422337-19422387	BE2_C	brain:	n/a
28	chr14:19377109-19377159	HRCEpiC	kidney:	n/a
29	chr14:19377109-19377159	PFSK-1	brain:	n/a
30	chr14:19402845-19402895	SAEC	small airway:	n/a
31	chr14:19421688-19421738	PANC-1	pancreas:	n/a
32	chr14:19377109-19377159	SAEC	small airway:	n/a
33	chr14:19421688-19421738	NB4	blood:	n/a
34	chr14:19413192-19413242	AG04449	skin:	fetal
35	chr14:19422337-19422387	HMEC	breast:	n/a
36	chr14:19377109-19377159	HL-60	blood:	n/a
37	chr14:19422337-19422387	GM19239	blood:	n/a
38	chr14:19421688-19421738	PFSK-1	brain:	n/a
39	chr14:19402845-19402895	HL-60	blood:	n/a
40	chr14:19377109-19377159	HCPEpiC	choroid plexus:	n/a
41	chr14:19413192-19413242	AG09319	gingival:	n/a
42	chr14:19377109-19377159	MCF-7	breast:	n/a
43	chr14:19377109-19377159	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:19377109-19377159	AoSMC	blood vessel:	n/a
45	chr14:19422337-19422387	HL-60	blood:	n/a
46	chr14:19421688-19421738	CMK	blood:	n/a
47	chr14:19413192-19413242	K562	blood:	n/a
48	chr14:19402845-19402895	U87	brain:	n/a
49	chr14:19402845-19402895	ovcar-3	ovarian:	n/a
50	chr14:19422337-19422387	GM12891	blood:	n/a

No data

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEM-9	chr14:19409573-19409681	ENSG00000257504
2	lnc-POTEM-9	chr14:19406795-19408008	ENSG00000257504
3	lnc-OR11H12.1-1	chr14:19413561-19413898	ENSG00000258364.1
4	lnc-POTEM-9	chr14:19407015-19408008	NR_046104
5	lnc-POTEM-9	chr14:19409573-19409681	NR_046104
6	lnc-OR11H12.1-1	chr14:19412520-19412744	ENSG00000258364.1
7	lnc-POTEM-9	chr14:19409942-19410111	ENSG00000257504
8	lnc-POTEM-9	chr14:19409942-19410111	NR_046104

No data

Variant related genes	Relation type
ENSG00000257959	TF binding region
ENSG00000258076	TF binding region
ENSG00000258364	TF binding region
ENSG00000257504	TF binding region
ENSG00000257175	TF binding region
ENSG00000257672	TF binding region
ARHGAP42P5	TF binding region
ENSG00000257731	TF binding region
ENSG00000257644	TF binding region
OR11H12	TF binding region
ENSG00000257959	CpG island
ENSG00000258076	CpG island
ENSG00000258364	CpG island
ENSG00000257504	CpG island
ENSG00000257175	CpG island
ENSG00000257672	CpG island
ARHGAP42P5	CpG island
ENSG00000257731	CpG island
ENSG00000257644	CpG island
OR11H12	CpG island

Extended variants
information (count: 284 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200075830	chr14:19389307-19389308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572276773	chr14:19389450-19389451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61969997	chr14:19389462-19389463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539695307	chr14:19389480-19389481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs61969998	chr14:19389487-19389488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199576637	chr14:19389729-19389730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200610431	chr14:19389738-19389739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573626430	chr14:19390774-19390775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs74580404	chr14:19390824-19390825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541135598	chr14:19390842-19390843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs77704721	chr14:19390843-19390844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201890645	chr14:19390848-19390849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527876486	chr14:19390849-19390850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200646044	chr14:19403090-19403091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537628062	chr14:19403094-19403095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201499575	chr14:19403169-19403170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs199559481	chr14:19403206-19403207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556345784	chr14:19403246-19403247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111668312	chr14:19403314-19403315	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs61970029	chr14:19403330-19403331	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs61970030	chr14:19403351-19403352	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs564128162	chr14:19406950-19406951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs199790270	chr14:19406968-19406969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs576017576	chr14:19407045-19407046	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs543512210	chr14:19407049-19407050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs562891113	chr14:19407070-19407071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs530227441	chr14:19407075-19407076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs548413310	chr14:19407108-19407109	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs560398137	chr14:19407128-19407129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs199742475	chr14:19407206-19407207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200566280	chr14:19407317-19407318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs61970053	chr14:19407538-19407539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs528006000	chr14:19407692-19407693	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs375201155	chr14:19407714-19407715	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs570834517	chr14:19407725-19407726	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs368081818	chr14:19407726-19407727	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs537906403	chr14:19407740-19407741	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs550246359	chr14:19407747-19407748	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs568503854	chr14:19407792-19407793	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs61970054	chr14:19407819-19407820	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs535631669	chr14:19407911-19407912	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs554040400	chr14:19407924-19407925	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs565949825	chr14:19408014-19408015	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs539757761	chr14:19408030-19408031	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs557427171	chr14:19408110-19408111	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs2027638	chr14:19409171-19409172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200578081	chr14:19409239-19409240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201026949	chr14:19409666-19409667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs371531146	chr14:19409970-19409971	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs568548118	chr14:19410001-19410002	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	20369283	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Incontinentia Pigmenti	22033527	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ependymoma	20639864	CNVD
Williams Syndrome	20824207	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:19433200-19433800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr14:19433600-19433800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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