Variant report

Variant	nsv974133
Chromosome Location	chr13:53080918-53110924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:53088187-53088371	K562	blood:	n/a	n/a
2	ATF1	chr13:53088164-53088389	K562	blood:	n/a	n/a
3	ATF3	chr13:53088183-53088428	K562	blood:	n/a	n/a
4	BACH1	chr13:53088181-53088381	K562	blood:	n/a	n/a
5	BATF	chr13:53107072-53107288	GM12878	blood:	n/a	chr13:53107179-53107190
6	CBX3	chr13:53088024-53088495	K562	blood:	n/a	n/a
7	CBX3	chr13:53085675-53086163	K562	blood:	n/a	n/a
8	CBX3	chr13:53085710-53086139	K562	blood:	n/a	n/a
9	CEBPB	chr13:53088130-53088469	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr13:53088061-53088464	K562	blood:	n/a	n/a
11	CEBPB	chr13:53088167-53088381	K562	blood:	n/a	n/a
12	CEBPD	chr13:53104952-53105252	K562	blood:	n/a	n/a
13	CHD2	chr13:53088297-53088367	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr13:53084101-53084178	Lung_OC	lung:	n/a	n/a
15	CTCF	chr13:53107353-53107445	GM12891	blood:	n/a	n/a
16	CTCF	chr13:53092847-53092944	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr13:53084441-53084479	GM20000	blood:	n/a	n/a
18	CTCF	chr13:53107369-53107406	MCF-7	breast:	n/a	n/a
19	CTCF	chr13:53107256-53107473	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr13:53083571-53083640	MCF-7	breast:	n/a	n/a
21	CTCF	chr13:53107361-53107368	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:53107224-53107321	MCF-7	breast:	n/a	n/a
23	CTCF	chr13:53092619-53092657	GM20000	blood:	n/a	n/a
24	CTCF	chr13:53109706-53109778	GM10248	blood:	n/a	n/a
25	E2F4	chr13:53088194-53088336	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr13:53084309-53084648	GM12878	blood:	n/a	n/a
27	EBF1	chr13:53084312-53084557	GM12878	blood:	n/a	n/a
28	EP300	chr13:53088045-53088510	K562	blood:	n/a	n/a
29	EP300	chr13:53088181-53088381	Hela-S3	cervix:	n/a	n/a
30	FOS	chr13:53088132-53088395	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr13:53088132-53088408	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr13:53088143-53088460	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr13:53088130-53088490	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr13:53092583-53092617	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL1	chr13:53088183-53088421	K562	blood:	n/a	chr13:53088313-53088324
36	FOSL1	chr13:53088213-53088425	K562	blood:	n/a	chr13:53088313-53088324
37	GATA1	chr13:53087867-53088459	PBDE	blood:	n/a	n/a
38	GATA2	chr13:53104968-53105329	K562	blood:	n/a	n/a
39	GATA2	chr13:53088083-53088375	K562	blood:	n/a	n/a
40	IRF1	chr13:53088191-53088341	K562	blood:	n/a	n/a
41	JUN	chr13:53088186-53088532	K562	blood:	n/a	n/a
42	JUN	chr13:53088179-53088380	K562	blood:	n/a	n/a
43	JUND	chr13:53088123-53088504	K562	blood:	n/a	n/a
44	KAP1	chr13:53085724-53086024	K562	blood:	n/a	n/a
45	MAFF	chr13:53088165-53088463	K562	blood:	n/a	n/a
46	MAFK	chr13:53088211-53088394	Hela-S3	cervix:	n/a	n/a
47	MAFK	chr13:53088168-53088495	K562	blood:	n/a	n/a
48	MAFK	chr13:53088196-53088391	IMR90	lung:	n/a	n/a
49	MAZ	chr13:53088306-53088335	K562	blood:	n/a	n/a
50	MEF2A	chr13:53088101-53088446	K562	blood:	n/a	chr13:53088259-53088274

No data

Variant related genes	Relation type
TPTE2P3	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565545045	chr13:53083008-53083009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189311891	chr13:53083010-53083011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74087329	chr13:53083018-53083019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192744302	chr13:53083035-53083036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535539718	chr13:53083063-53083064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184010424	chr13:53083066-53083067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549041868	chr13:53083090-53083091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374310303	chr13:53083114-53083115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538171735	chr13:53083147-53083148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147902923	chr13:53083202-53083203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577834682	chr13:53083204-53083205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113017719	chr13:53083229-53083230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112227641	chr13:53083236-53083237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533747813	chr13:53083272-53083273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188648820	chr13:53083277-53083278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573844762	chr13:53083305-53083306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561917589	chr13:53083317-53083318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367985751	chr13:53083331-53083332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372200550	chr13:53083335-53083336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530960207	chr13:53083342-53083343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181761023	chr13:53083356-53083357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2793014	chr13:53083358-53083359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2760786	chr13:53083364-53083365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2793015	chr13:53083416-53083417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144712801	chr13:53083417-53083418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371694696	chr13:53083508-53083509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527939677	chr13:53083521-53083522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376659877	chr13:53083532-53083533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529035201	chr13:53083551-53083552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141562834	chr13:53083598-53083599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568909410	chr13:53083620-53083621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199851716	chr13:53083749-53083750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186020957	chr13:53083789-53083790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571454565	chr13:53083871-53083872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533834772	chr13:53083898-53083899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553583288	chr13:53083900-53083901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567100293	chr13:53083991-53083992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536010734	chr13:53084180-53084181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556397341	chr13:53084218-53084219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576438335	chr13:53084222-53084223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545073640	chr13:53084224-53084225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534358725	chr13:53084235-53084236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558906510	chr13:53084248-53084249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566770332	chr13:53084257-53084258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541731658	chr13:53084261-53084262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561496138	chr13:53084279-53084280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530342036	chr13:53084292-53084293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543965407	chr13:53084306-53084307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562453048	chr13:53084538-53084539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531390847	chr13:53084539-53084540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Acute lymphoblastic leukemia	22237106	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53083000-53083400	Enhancers	HSMM	muscle
2	chr13:53083200-53083400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:53083200-53083800	Enhancers	HSMMtube	muscle
4	chr13:53083400-53084400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:53083400-53084800	Weak transcription	HSMM	muscle
6	chr13:53083800-53084200	Weak transcription	HSMMtube	muscle
7	chr13:53084200-53084600	Enhancers	HSMMtube	muscle
8	chr13:53084400-53085000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:53084400-53085000	Enhancers	Fetal Muscle Trunk	muscle
10	chr13:53084400-53085000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr13:53084800-53085200	Enhancers	Fetal Muscle Leg	muscle
12	chr13:53084800-53085400	Enhancers	HSMM	muscle
13	chr13:53085000-53088200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:53088200-53088600	Enhancers	Muscle Satellite Cultured Cells	--

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