Variant report

Variant	nsv977246
Chromosome Location	chr13:55013586-55019919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:55019656-55019918	A549	lung:	n/a	n/a
2	CEBPB	chr13:55019658-55019953	IMR90	lung:	n/a	n/a
3	CTCF	chr13:55015318-55015397	GM13976	blood:	n/a	n/a
4	GATA2	chr13:55014733-55015074	K562	blood:	n/a	n/a
5	HEY1	chr13:55015297-55015514	K562	blood:	n/a	n/a
6	HEY1	chr13:55014740-55015172	K562	blood:	n/a	n/a
7	JUN	chr13:55019738-55019824	HepG2	liver:	n/a	chr13:55019791-55019804
8	JUND	chr13:55019710-55019927	HepG2	liver:	n/a	n/a
9	POLR2A	chr13:55015184-55015504	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:55014725-55015187	GM12892	blood:	n/a	n/a
11	POLR2A	chr13:55014750-55015077	GM12878	blood:	n/a	n/a
12	POLR2A	chr13:55014720-55015538	GM12878	blood:	n/a	n/a
13	POLR2A	chr13:55015308-55015473	A549	lung:	n/a	n/a
14	POLR2A	chr13:55015352-55015497	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr13:55014749-55015098	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr13:55014695-55015559	GM12892	blood:	n/a	n/a
17	POLR2A	chr13:55014769-55015147	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr13:55015174-55015511	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr13:55015298-55015463	A549	lung:	n/a	n/a
20	POLR2A	chr13:55014666-55015383	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr13:55016062-55016262	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr13:55014775-55015175	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:55015297-55015486	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr13:55014778-55014987	A549	lung:	n/a	n/a
25	POLR2A	chr13:55014757-55015165	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr13:55014740-55015169	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr13:55014764-55015124	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr13:55014698-55015542	GM12892	blood:	n/a	n/a
29	POU2F2	chr13:55014734-55015193	GM12878	blood:	n/a	n/a
30	POU2F2	chr13:55014847-55014975	GM12878	blood:	n/a	n/a
31	REST	chr13:55014776-55015137	PANC-1	pancreas:	n/a	n/a
32	SP1	chr13:55014747-55015050	GM12878	blood:	n/a	n/a
33	SPI1	chr13:55019621-55019891	HL-60	blood:	n/a	n/a
34	TCF12	chr13:55014800-55014977	GM12878	blood:	n/a	n/a
35	ZBTB33	chr13:55014729-55015192	K562	blood:	n/a	n/a
36	ZBTB33	chr13:55015199-55015465	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:55015275-55015325	HMEC	breast:	n/a
2	chr13:55015549-55015599	GM12891	blood:	n/a
3	chr13:55015549-55015599	AG04450	lung:	fetal
4	chr13:55015269-55015319	U87	brain:	n/a
5	chr13:55015275-55015325	NT2-D1	testis:	n/a
6	chr13:55015269-55015319	PrEC	prostate:	n/a
7	chr13:55015269-55015319	HAEpiC	amniotic membrane:	n/a
8	chr13:55015269-55015319	NHDF-neo	bronchial:	n/a
9	chr13:55015269-55015319	Hepatocyte	liver:	n/a
10	chr13:55015269-55015319	HEEpiC	esophagus:	n/a
11	chr13:55015269-55015319	LNCaP	prostate:	n/a
12	chr13:55015269-55015319	HCPEpiC	choroid plexus:	n/a
13	chr13:55015269-55015319	T-47D	breast:	n/a
14	chr13:55015269-55015319	HCM	heart:	n/a
15	chr13:55015549-55015599	GM12892	blood:	n/a
16	chr13:55015269-55015319	HepG2	liver:	n/a
17	chr13:55015275-55015325	HL-60	blood:	n/a
18	chr13:55015549-55015599	GM06990	blood:	n/a
19	chr13:55015549-55015599	HRPEpiC	eye:	n/a
20	chr13:55015275-55015325	HPAEpiC	pulmonary alveolar:	n/a
21	chr13:55015269-55015319	GM12892	blood:	n/a
22	chr13:55015549-55015599	HL-60	blood:	n/a
23	chr13:55015269-55015319	BJ	skin:	n/a
24	chr13:55015269-55015319	NB4	blood:	n/a
25	chr13:55015549-55015599	SKMC	muscle:	n/a
26	chr13:55015549-55015599	AG04449	skin:	fetal
27	chr13:55015549-55015599	MCF-7	breast:	n/a
28	chr13:55015275-55015325	Jurkat	blood:	n/a
29	chr13:55015549-55015599	A549	lung:	n/a
30	chr13:55015275-55015325	IMR90	lung:	fetal
31	chr13:55015549-55015599	NT2-D1	testis:	n/a
32	chr13:55015269-55015319	HRE	kidney:	n/a
33	chr13:55015269-55015319	SK-N-MC	brain:	n/a
34	chr13:55015549-55015599	Jurkat	blood:	n/a
35	chr13:55015269-55015319	SK-N-SH	brain:	n/a
36	chr13:55015275-55015325	HEK293	kidney:	embryo
37	chr13:55015549-55015599	HIPEpiC	eye:	n/a
38	chr13:55015269-55015319	HUVEC	blood vessel:	n/a
39	chr13:55015549-55015599	HEK293	kidney:	embryo
40	chr13:55015269-55015319	HL-60	blood:	n/a
41	chr13:55015269-55015319	GM19239	blood:	n/a
42	chr13:55015269-55015319	NH-A	brain:	n/a
43	chr13:55015275-55015325	HEEpiC	esophagus:	n/a
44	chr13:55015275-55015325	NB4	blood:	n/a
45	chr13:55015549-55015599	Caco-2	colon:	n/a
46	chr13:55015549-55015599	NB4	blood:	n/a
47	chr13:55015549-55015599	NHBE	bronchial:	n/a
48	chr13:55015275-55015325	BE2_C	brain:	n/a
49	chr13:55015549-55015599	HCF	heart:	n/a
50	chr13:55015549-55015599	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
RPL13AP25	TF binding region
RPL13AP25	CpG island

Extended variants
information (count: 148 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141535983	chr13:55013648-55013649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559109440	chr13:55013690-55013691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528056004	chr13:55013703-55013704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75304594	chr13:55013711-55013712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9536724	chr13:55013784-55013785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9536725	chr13:55013831-55013832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76395049	chr13:55013855-55013856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78734388	chr13:55013884-55013885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114457645	chr13:55013899-55013900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576025027	chr13:55013918-55013919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115121069	chr13:55013954-55013955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573188552	chr13:55013995-55013996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371703301	chr13:55014004-55014005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116895488	chr13:55014015-55014016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374082606	chr13:55014025-55014026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574790702	chr13:55014027-55014028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372741765	chr13:55014031-55014032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141084542	chr13:55014036-55014037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563355193	chr13:55014099-55014100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576941566	chr13:55014101-55014102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150250062	chr13:55014113-55014114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138882731	chr13:55014167-55014168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528116489	chr13:55014194-55014195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7330374	chr13:55014223-55014224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561305084	chr13:55014225-55014226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531124598	chr13:55014227-55014228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551225457	chr13:55014265-55014266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10646311	chr13:55014310-55014311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367793439	chr13:55014311-55014312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397952025	chr13:55014316-55014317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7331663	chr13:55014331-55014332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540005244	chr13:55014349-55014350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546816512	chr13:55014371-55014372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371917979	chr13:55014412-55014413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537332421	chr13:55014413-55014414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191982303	chr13:55014466-55014467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181588128	chr13:55014494-55014495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555809827	chr13:55014507-55014508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537281413	chr13:55014511-55014512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60727289	chr13:55014520-55014521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563452873	chr13:55014549-55014550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569242422	chr13:55014550-55014551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374459303	chr13:55014596-55014597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200116049	chr13:55014604-55014605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56166492	chr13:55014621-55014622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533751732	chr13:55014628-55014629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55985812	chr13:55014632-55014633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55965827	chr13:55014639-55014640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55633833	chr13:55014645-55014646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56403103	chr13:55014651-55014652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	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
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55012200-55016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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