Variant report

Variant	esv16766
Chromosome Location	chr14:19366347-19553358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:438)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:19461425-19461537	K562	blood:	n/a	n/a
2	ATF1	chr14:19436953-19437483	K562	blood:	n/a	n/a
3	ATF1	chr14:19462190-19462538	K562	blood:	n/a	n/a
4	ATF1	chr14:19450073-19450214	K562	blood:	n/a	n/a
5	ATF1	chr14:19464826-19465023	K562	blood:	n/a	n/a
6	BACH1	chr14:19438368-19438886	K562	blood:	n/a	n/a
7	BACH1	chr14:19462184-19462510	K562	blood:	n/a	n/a
8	BACH1	chr14:19464051-19464239	K562	blood:	n/a	n/a
9	BATF	chr14:19548118-19548363	GM12878	blood:	n/a	n/a
10	BATF	chr14:19548036-19548546	GM12878	blood:	n/a	n/a
11	BATF	chr14:19541408-19541756	GM12878	blood:	n/a	n/a
12	BATF	chr14:19487460-19487744	GM12878	blood:	n/a	n/a
13	BATF	chr14:19541484-19541694	GM12878	blood:	n/a	n/a
14	BATF	chr14:19546952-19547321	GM12878	blood:	n/a	n/a
15	BCL11A	chr14:19548084-19548501	GM12878	blood:	n/a	chr14:19548252-19548261
16	BCL11A	chr14:19488926-19489115	GM12878	blood:	n/a	n/a
17	BHLHE40	chr14:19457659-19457916	K562	blood:	n/a	chr14:19457829-19457838
18	BHLHE40	chr14:19458927-19459003	K562	blood:	n/a	n/a
19	CEBPB	chr14:19461190-19461447	HepG2	liver:	n/a	n/a
20	CEBPB	chr14:19489600-19489962	A549	lung:	n/a	n/a
21	CEBPB	chr14:19489607-19489939	K562	blood:	n/a	n/a
22	CEBPB	chr14:19489602-19489933	IMR90	lung:	n/a	n/a
23	CEBPB	chr14:19491543-19491896	K562	blood:	n/a	chr14:19491752-19491761 chr14:19491752-19491761 chr14:19491752-19491761
24	CTCF	chr14:19552360-19552510	HepG2	liver:	n/a	chr14:19552377-19552386
25	CTCF	chr14:19422629-19422908	LNCaP	prostate:	n/a	n/a
26	CTCF	chr14:19505903-19506311	K562	blood:	n/a	n/a
27	CTCF	chr14:19486264-19486319	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr14:19433580-19433730	HEK293	kidney:	n/a	n/a
29	CTCF	chr14:19465570-19465638	GM13976	blood:	n/a	n/a
30	CTCF	chr14:19444960-19445110	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:19503572-19503652	Gliobla	brain:	n/a	chr14:19503599-19503612
32	CTCF	chr14:19476390-19476496	A549	lung:	n/a	n/a
33	CTCF	chr14:19446815-19446822	GM10248	blood:	n/a	n/a
34	CTCF	chr14:19433560-19433710	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:19503386-19503732	K562	blood:	n/a	chr14:19503599-19503612
36	CTCF	chr14:19503568-19503673	MCF-7	breast:	n/a	chr14:19503599-19503612
37	CTCF	chr14:19476421-19476492	MCF-7	breast:	n/a	n/a
38	CTCF	chr14:19448919-19448938	GM10248	blood:	n/a	n/a
39	CTCF	chr14:19503478-19503674	HepG2	liver:	n/a	chr14:19503599-19503612
40	CTCF	chr14:19507772-19507844	MCF-7	breast:	n/a	chr14:19507811-19507824 chr14:19507809-19507827
41	CTCF	chr14:19393007-19393424	A549	lung:	n/a	n/a
42	CTCF	chr14:19446747-19446809	GM10248	blood:	n/a	n/a
43	CTCF	chr14:19503480-19503630	MCF-7	breast:	n/a	chr14:19503599-19503612
44	CTCF	chr14:19393115-19393321	LNCaP	prostate:	n/a	n/a
45	CTCF	chr14:19414111-19414176	GM10248	blood:	n/a	n/a
46	CTCF	chr14:19408475-19408480	GM10248	blood:	n/a	n/a
47	CTCF	chr14:19393033-19393400	K562	blood:	n/a	n/a
48	CTCF	chr14:19407747-19407987	A549	lung:	n/a	n/a
49	CTCF	chr14:19543208-19543328	LNCaP	prostate:	n/a	n/a
50	CTCF	chr14:19503553-19503673	MCF-7	breast:	n/a	chr14:19503599-19503612

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19413192-19413242	ProgFib	skin:	n/a
2	chr14:19413192-19413242	MCF10A-Er-Src	breast:	n/a
3	chr14:19421688-19421738	NB4	blood:	n/a
4	chr14:19413192-19413242	AG04449	skin:	fetal
5	chr14:19377109-19377159	PrEC	prostate:	n/a
6	chr14:19377109-19377159	Caco-2	colon:	n/a
7	chr14:19402845-19402895	HIPEpiC	eye:	n/a
8	chr14:19377109-19377159	GM19239	blood:	n/a
9	chr14:19413192-19413242	HCF	heart:	n/a
10	chr14:19421688-19421738	NT2-D1	testis:	n/a
11	chr14:19421688-19421738	HRPEpiC	eye:	n/a
12	chr14:19377109-19377159	MCF-7	breast:	n/a
13	chr14:19413192-19413242	H1-hESC	embryonic stem cell:	embryo
14	chr14:19402845-19402895	Hela-S3	cervix:	n/a
15	chr14:19422337-19422387	SKMC	muscle:	n/a
16	chr14:19377109-19377159	HCF	heart:	n/a
17	chr14:19422337-19422387	HCT-116	colon:	n/a
18	chr14:19422337-19422387	K562	blood:	n/a
19	chr14:19422337-19422387	GM06990	blood:	n/a
20	chr14:19402845-19402895	HMEC	breast:	n/a
21	chr14:19422337-19422387	BJ	skin:	n/a
22	chr14:19377109-19377159	T-47D	breast:	n/a
23	chr14:19421688-19421738	RPTEC	kidney:	n/a
24	chr14:19402845-19402895	BJ	skin:	n/a
25	chr14:19413192-19413242	K562	blood:	n/a
26	chr14:19421688-19421738	GM12892	blood:	n/a
27	chr14:19413192-19413242	Hepatocyte	liver:	n/a
28	chr14:19422337-19422387	Caco-2	colon:	n/a
29	chr14:19402845-19402895	CMK	blood:	n/a
30	chr14:19421688-19421738	AG04450	lung:	fetal
31	chr14:19421688-19421738	AG10803	skin:	n/a
32	chr14:19413192-19413242	HEK293	kidney:	embryo
33	chr14:19422337-19422387	HCPEpiC	choroid plexus:	n/a
34	chr14:19422337-19422387	HIPEpiC	eye:	n/a
35	chr14:19402845-19402895	SK-N-SH_RA	brain:	n/a
36	chr14:19422337-19422387	MCF10A-Er-Src	breast:	n/a
37	chr14:19377109-19377159	SK-N-SH	brain:	n/a
38	chr14:19422337-19422387	T-47D	breast:	n/a
39	chr14:19421688-19421738	PANC-1	pancreas:	n/a
40	chr14:19421688-19421738	BE2_C	brain:	n/a
41	chr14:19421688-19421738	ProgFib	skin:	n/a
42	chr14:19377109-19377159	GM12891	blood:	n/a
43	chr14:19413192-19413242	NB4	blood:	n/a
44	chr14:19421688-19421738	LNCaP	prostate:	n/a
45	chr14:19422337-19422387	HCM	heart:	n/a
46	chr14:19413192-19413242	U87	brain:	n/a
47	chr14:19377109-19377159	NT2-D1	testis:	n/a
48	chr14:19413192-19413242	HPAEpiC	pulmonary alveolar:	n/a
49	chr14:19402845-19402895	HRPEpiC	eye:	n/a
50	chr14:19402845-19402895	HRCEpiC	kidney:	n/a

No data

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEG-9	chr14:19468509-19468885	NONHSAT035447
2	lnc-POTEG-2	chr14:19515341-19515613	ENSG00000257891.1
3	lnc-POTEM-9	chr14:19407015-19408008	NR_046104
4	lnc-POTEM-9	chr14:19409942-19410111	NR_046104
5	lnc-POTEM-9	chr14:19406795-19408008	ENSG00000257504
6	lnc-POTEM-9	chr14:19409573-19409681	ENSG00000257504
7	lnc-OR11H12.1-1	chr14:19413561-19413898	ENSG00000258364.1
8	lnc-OR11H12.1-1	chr14:19412520-19412744	ENSG00000258364.1
9	lnc-POTEM-10	chr14:19372736-19372787	ENSG00000257959.1
10	lnc-POTEG-2	chr14:19519800-19519837	ENSG00000257891.1
11	lnc-POTEM-15	chr14:19459200-19459267	NONHSAT035446
12	lnc-POTEM-9	chr14:19409942-19410111	ENSG00000257504
13	lnc-POTEG-2	chr14:19517501-19517607	ENSG00000257891.1
14	lnc-POTEG-1	chr14:19529958-19530169	ENSG00000258265.1
15	lnc-POTEG-1	chr14:19530730-19530898	ENSG00000258265.1
16	lnc-POTEM-15	chr14:19458358-19458713	NONHSAT035446
17	lnc-POTEM-9	chr14:19409573-19409681	NR_046104

No data

Variant related genes	Relation type
ENSG00000258265	TF binding region
ENSG00000257558	TF binding region
ENSG00000258364	TF binding region
ENSG00000257504	TF binding region
ENSG00000257175	TF binding region
ARHGAP42P5	TF binding region
ENSG00000257731	TF binding region
NF1P4	TF binding region
ENSG00000257825	TF binding region
ENSG00000257891	TF binding region
ENSG00000257959	TF binding region
ENSG00000258076	TF binding region
MED15P1	TF binding region
ENSG00000257635	TF binding region
ENSG00000257672	TF binding region
ENSG00000239200	TF binding region
ENSG00000257224	TF binding region
ENSG00000257644	TF binding region
OR11H12	TF binding region
POTEG	TF binding region
ENSG00000258265	CpG island
ENSG00000257558	CpG island
ENSG00000258364	CpG island
ENSG00000257504	CpG island
ENSG00000257175	CpG island
ARHGAP42P5	CpG island
ENSG00000257731	CpG island
NF1P4	CpG island
ENSG00000257825	CpG island
ENSG00000257891	CpG island
ENSG00000257959	CpG island
ENSG00000258076	CpG island
MED15P1	CpG island
ENSG00000257635	CpG island
ENSG00000257672	CpG island
ENSG00000239200	CpG island
ENSG00000257224	CpG island
ENSG00000257644	CpG island
OR11H12	CpG island
POTEG	CpG island

Extended variants
information (count: 966 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:966 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369297293	chr14:19366358-19366359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372424608	chr14:19366364-19366365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552069494	chr14:19366383-19366384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200873213	chr14:19366398-19366399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs373551295	chr14:19367505-19367506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs371094568	chr14:19367523-19367524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528550407	chr14:19367530-19367531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547086624	chr14:19367533-19367534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199770506	chr14:19373645-19373646	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs61969148	chr14:19373916-19373917	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs145459725	chr14:19373981-19373982	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs140080877	chr14:19373992-19373993	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs145696616	chr14:19373995-19373996	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs541072283	chr14:19375025-19375026	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs200075830	chr14:19389307-19389308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572276773	chr14:19389450-19389451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs61969997	chr14:19389462-19389463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539695307	chr14:19389480-19389481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs61969998	chr14:19389487-19389488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199576637	chr14:19389729-19389730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200610431	chr14:19389738-19389739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573626430	chr14:19390774-19390775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs74580404	chr14:19390824-19390825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541135598	chr14:19390842-19390843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs77704721	chr14:19390843-19390844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201890645	chr14:19390848-19390849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527876486	chr14:19390849-19390850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200646044	chr14:19403090-19403091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs537628062	chr14:19403094-19403095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201499575	chr14:19403169-19403170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs199559481	chr14:19403206-19403207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556345784	chr14:19403246-19403247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111668312	chr14:19403314-19403315	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs61970029	chr14:19403330-19403331	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs61970030	chr14:19403351-19403352	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs564128162	chr14:19406950-19406951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs199790270	chr14:19406968-19406969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576017576	chr14:19407045-19407046	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs543512210	chr14:19407049-19407050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs562891113	chr14:19407070-19407071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs530227441	chr14:19407075-19407076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs548413310	chr14:19407108-19407109	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs560398137	chr14:19407128-19407129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs199742475	chr14:19407206-19407207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200566280	chr14:19407317-19407318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs61970053	chr14:19407538-19407539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs528006000	chr14:19407692-19407693	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs375201155	chr14:19407714-19407715	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs570834517	chr14:19407725-19407726	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs368081818	chr14:19407726-19407727	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 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
3	chr14:19435400-19439200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr14:19444400-19444800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:19444400-19445200	ZNF genes & repeats	Fetal Lung	lung
6	chr14:19444400-19445800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr14:19444400-19446000	Active TSS	Fetal Heart	heart
8	chr14:19445000-19445200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:19462400-19462800	ZNF genes & repeats	Fetal Kidney	kidney
10	chr14:19500000-19500200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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