Variant report

Variant	nsv977238
Chromosome Location	chr13:50745758-50747910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:50747311-50747549	Hela-S3	cervix:	n/a	chr13:50747380-50747391
2	CEBPB	chr13:50747203-50747545	H1-hESC	embryonic stem cell:	n/a	chr13:50747380-50747391
3	CEBPB	chr13:50747199-50747559	IMR90	lung:	n/a	chr13:50747380-50747391
4	CEBPB	chr13:50747209-50747551	K562	blood:	n/a	chr13:50747380-50747391
5	CEBPB	chr13:50747205-50747560	A549	lung:	n/a	chr13:50747380-50747391
6	CEBPB	chr13:50747192-50747500	K562	blood:	n/a	chr13:50747380-50747391
7	CEBPB	chr13:50747209-50747565	HepG2	liver:	n/a	chr13:50747380-50747391
8	CEBPB	chr13:50747322-50747425	HepG2	liver:	n/a	chr13:50747380-50747391
9	EP300	chr13:50746938-50747194	GM12878	blood:	n/a	n/a
10	FOSL2	chr13:50746915-50747480	HepG2	liver:	n/a	n/a
11	HEY1	chr13:50746007-50746383	HepG2	liver:	n/a	n/a
12	JUND	chr13:50747053-50747270	HepG2	liver:	n/a	n/a
13	POLR2A	chr13:50746112-50746281	GM12878	blood:	n/a	n/a
14	POLR2A	chr13:50746092-50746299	A549	lung:	n/a	n/a
15	POLR2A	chr13:50746009-50746385	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr13:50746077-50746319	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr13:50746116-50746261	A549	lung:	n/a	n/a
18	POLR2A	chr13:50746106-50746297	HepG2	liver:	n/a	n/a
19	POLR2A	chr13:50746713-50747332	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr13:50746122-50746246	A549	lung:	n/a	n/a
21	POLR2A	chr13:50746110-50746297	GM12878	blood:	n/a	n/a
22	REST	chr13:50746861-50747300	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr13:50746861-50747284	H1-hESC	embryonic stem cell:	n/a	n/a
24	RXRA	chr13:50746926-50747253	HepG2	liver:	n/a	n/a
25	SP1	chr13:50746890-50747553	HepG2	liver:	n/a	n/a
26	STAT3	chr13:50747889-50748173	MCF10A-Er-Src	breast:	n/a	n/a
27	TEAD4	chr13:50746873-50747364	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr13:50746852-50747302	HepG2	liver:	n/a	n/a
29	TEAD4	chr13:50745819-50746091	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr13:50746886-50747360	H1-hESC	embryonic stem cell:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50746150-50746200	AG04450	lung:	fetal
2	chr13:50746150-50746200	HRPEpiC	eye:	n/a
3	chr13:50746138-50746188	IMR90	lung:	fetal
4	chr13:50746150-50746200	RPTEC	kidney:	n/a
5	chr13:50746150-50746200	GM19239	blood:	n/a
6	chr13:50746245-50746295	AG09319	gingival:	n/a
7	chr13:50746150-50746200	HCF	heart:	n/a
8	chr13:50746138-50746188	SKMC	muscle:	n/a
9	chr13:50746150-50746200	HCT-116	colon:	n/a
10	chr13:50746150-50746200	PrEC	prostate:	n/a
11	chr13:50745832-50745882	NHDF-neo	bronchial:	n/a
12	chr13:50746150-50746200	ovcar-3	ovarian:	n/a
13	chr13:50746245-50746295	ProgFib	skin:	n/a
14	chr13:50746245-50746295	MCF-7	breast:	n/a
15	chr13:50746150-50746200	HepG2	liver:	n/a
16	chr13:50746245-50746295	Jurkat	blood:	n/a
17	chr13:50745832-50745882	HRE	kidney:	n/a
18	chr13:50746150-50746200	PANC-1	pancreas:	n/a
19	chr13:50745832-50745882	HCF	heart:	n/a
20	chr13:50745832-50745882	ECC-1	luminal epithelium:	n/a
21	chr13:50746245-50746295	HRCEpiC	kidney:	n/a
22	chr13:50746245-50746295	GM12891	blood:	n/a
23	chr13:50745832-50745882	MCF10A-Er-Src	breast:	n/a
24	chr13:50745832-50745882	LNCaP	prostate:	n/a
25	chr13:50746245-50746295	Caco-2	colon:	n/a
26	chr13:50746150-50746200	SK-N-SH	brain:	n/a
27	chr13:50746245-50746295	NHDF-neo	bronchial:	n/a
28	chr13:50746150-50746200	IMR90	lung:	fetal
29	chr13:50746138-50746188	HUVEC	blood vessel:	n/a
30	chr13:50745832-50745882	HNPCEpiC	eye:	n/a
31	chr13:50746138-50746188	A549	lung:	n/a
32	chr13:50746150-50746200	LNCaP	prostate:	n/a
33	chr13:50745832-50745882	GM06990	blood:	n/a
34	chr13:50745832-50745882	CMK	blood:	n/a
35	chr13:50746245-50746295	HCF	heart:	n/a
36	chr13:50745832-50745882	HRCEpiC	kidney:	n/a
37	chr13:50746138-50746188	HCM	heart:	n/a
38	chr13:50746138-50746188	Hela-S3	cervix:	n/a
39	chr13:50746138-50746188	HAEpiC	amniotic membrane:	n/a
40	chr13:50746245-50746295	HPAEpiC	pulmonary alveolar:	n/a
41	chr13:50746138-50746188	HPAEpiC	pulmonary alveolar:	n/a
42	chr13:50745832-50745882	HIPEpiC	eye:	n/a
43	chr13:50746245-50746295	AG04449	skin:	fetal
44	chr13:50746150-50746200	GM06990	blood:	n/a
45	chr13:50745832-50745882	HepG2	liver:	n/a
46	chr13:50745832-50745882	PFSK-1	brain:	n/a
47	chr13:50746150-50746200	Jurkat	blood:	n/a
48	chr13:50746150-50746200	GM12891	blood:	n/a
49	chr13:50745832-50745882	U87	brain:	n/a
50	chr13:50746138-50746188	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50697643..50699321-chr13:50747140..50749271,2	K562	blood:
2	chr13:50697643..50700194-chr13:50747062..50749271,2	K562	blood:

No data

Variant related genes	Relation type
ST13P4	TF binding region
ST13P4	CpG island
ENSG00000231607	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538842003	chr13:50745783-50745784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186067968	chr13:50745785-50745786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565656035	chr13:50745792-50745793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536654152	chr13:50745832-50745833	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs536372310	chr13:50745833-50745834	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs556245693	chr13:50745866-50745867	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs151175376	chr13:50745894-50745895	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140045863	chr13:50745903-50745904	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538144094	chr13:50745913-50745914	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574978299	chr13:50745919-50745920	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190233137	chr13:50745966-50745967	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7333147	chr13:50745971-50745972	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371725937	chr13:50746014-50746015	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545211805	chr13:50746035-50746036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150299665	chr13:50746115-50746116	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572427500	chr13:50746161-50746162	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs112713819	chr13:50746180-50746181	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs543143025	chr13:50746198-50746199	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs561116467	chr13:50746201-50746202	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs531786878	chr13:50746206-50746207	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543696518	chr13:50746216-50746217	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs565191325	chr13:50746230-50746231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532313397	chr13:50746234-50746235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182826091	chr13:50746235-50746236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565899592	chr13:50746252-50746253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137951209	chr13:50746310-50746311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3070815	chr13:50746345-50746346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116067924	chr13:50746351-50746352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569503286	chr13:50746384-50746385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536656867	chr13:50746398-50746399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3070818	chr13:50746404-50746405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556404281	chr13:50746428-50746429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142249789	chr13:50746436-50746437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538976495	chr13:50746441-50746442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554058843	chr13:50746452-50746453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200448472	chr13:50746496-50746497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542752850	chr13:50746509-50746510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555050427	chr13:50746524-50746525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3990243	chr13:50746533-50746534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3990244	chr13:50746540-50746541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576467700	chr13:50746607-50746608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3958732	chr13:50746617-50746618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3990245	chr13:50746623-50746624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3990246	chr13:50746629-50746630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187390514	chr13:50746646-50746647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192174178	chr13:50746649-50746650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183749794	chr13:50746717-50746718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532430285	chr13:50746889-50746890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541355670	chr13:50746930-50746931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530631275	chr13:50746931-50746932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50735600-50745800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:50741600-50749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:50745600-50746200	Enhancers	Fetal Heart	heart
4	chr13:50745800-50746000	Enhancers	Osteobl	bone
5	chr13:50745800-50746400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:50746200-50746800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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