Variant report

Variant	esv2763025
Chromosome Location	chr13:55004448-55023333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

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	E2F4	chr13:55020822-55021094	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr13:55013296-55013382	MCF10A-Er-Src	breast:	n/a	n/a
6	FAM48A	chr13:55005893-55005966	GM12878	blood:	n/a	n/a
7	FAM48A	chr13:55011553-55011704	GM12878	blood:	n/a	n/a
8	GATA2	chr13:55014733-55015074	K562	blood:	n/a	n/a
9	HEY1	chr13:55014740-55015172	K562	blood:	n/a	n/a
10	HEY1	chr13:55015297-55015514	K562	blood:	n/a	n/a
11	JUN	chr13:55019738-55019824	HepG2	liver:	n/a	chr13:55019791-55019804
12	JUND	chr13:55019710-55019927	HepG2	liver:	n/a	n/a
13	MAFF	chr13:55020030-55020373	HepG2	liver:	n/a	n/a
14	MAFF	chr13:55007737-55008031	HepG2	liver:	n/a	n/a
15	MAFF	chr13:55020036-55020328	K562	blood:	n/a	n/a
16	MAFK	chr13:55020016-55020373	HepG2	liver:	n/a	chr13:55020186-55020197
17	MAFK	chr13:55020035-55020364	HepG2	liver:	n/a	chr13:55020186-55020197
18	MAFK	chr13:55020087-55020249	H1-hESC	embryonic stem cell:	n/a	chr13:55020186-55020197
19	MAFK	chr13:55020020-55020405	IMR90	lung:	n/a	chr13:55020186-55020197
20	POLR2A	chr13:55014698-55015542	GM12892	blood:	n/a	n/a
21	POLR2A	chr13:55015174-55015511	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr13:55015352-55015497	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr13:55014775-55015175	GM12878	blood:	n/a	n/a
24	POLR2A	chr13:55014778-55014987	A549	lung:	n/a	n/a
25	POLR2A	chr13:55007311-55007337	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr13:55015298-55015463	A549	lung:	n/a	n/a
27	POLR2A	chr13:55016062-55016262	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr13:55014750-55015077	GM12878	blood:	n/a	n/a
29	POLR2A	chr13:55014764-55015124	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr13:55007700-55007797	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr13:55014769-55015147	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr13:55015184-55015504	GM12878	blood:	n/a	n/a
33	POLR2A	chr13:55014695-55015559	GM12892	blood:	n/a	n/a
34	POLR2A	chr13:55021557-55021571	MCF-7	breast:	n/a	n/a
35	POLR2A	chr13:55014740-55015169	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr13:55010409-55010554	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr13:55009998-55010164	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr13:55014720-55015538	GM12878	blood:	n/a	n/a
39	POLR2A	chr13:55006179-55006338	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr13:55014666-55015383	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr13:55010951-55011064	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr13:55014725-55015187	GM12892	blood:	n/a	n/a
43	POLR2A	chr13:55015297-55015486	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr13:55014757-55015165	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr13:55015308-55015473	A549	lung:	n/a	n/a
46	POLR2A	chr13:55021581-55021619	MCF-7	breast:	n/a	n/a
47	POLR2A	chr13:55014749-55015098	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr13:55011851-55011915	MCF10A-Er-Src	breast:	n/a	n/a
49	POU2F2	chr13:55014734-55015193	GM12878	blood:	n/a	n/a
50	POU2F2	chr13:55014847-55014975	GM12878	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	chr13:55015269-55015319	HPAEpiC	pulmonary alveolar:	n/a
2	chr13:55015269-55015319	HepG2	liver:	n/a
3	chr13:55015269-55015319	HRE	kidney:	n/a
4	chr13:55015549-55015599	MCF10A-Er-Src	breast:	n/a
5	chr13:55015549-55015599	HCF	heart:	n/a
6	chr13:55015269-55015319	HRPEpiC	eye:	n/a
7	chr13:55015549-55015599	CMK	blood:	n/a
8	chr13:55015275-55015325	HEEpiC	esophagus:	n/a
9	chr13:55015275-55015325	RPTEC	kidney:	n/a
10	chr13:55015275-55015325	SK-N-MC	brain:	n/a
11	chr13:55015269-55015319	LNCaP	prostate:	n/a
12	chr13:55015269-55015319	Hela-S3	cervix:	n/a
13	chr13:55015269-55015319	Jurkat	blood:	n/a
14	chr13:55015275-55015325	SK-N-SH_RA	brain:	n/a
15	chr13:55015275-55015325	IMR90	lung:	fetal
16	chr13:55015269-55015319	NHBE	bronchial:	n/a
17	chr13:55015275-55015325	A549	lung:	n/a
18	chr13:55015549-55015599	HRCEpiC	kidney:	n/a
19	chr13:55015549-55015599	HIPEpiC	eye:	n/a
20	chr13:55015269-55015319	AG04449	skin:	fetal
21	chr13:55015275-55015325	HMEC	breast:	n/a
22	chr13:55015269-55015319	HL-60	blood:	n/a
23	chr13:55015549-55015599	PFSK-1	brain:	n/a
24	chr13:55015275-55015325	GM19239	blood:	n/a
25	chr13:55015275-55015325	HL-60	blood:	n/a
26	chr13:55015549-55015599	HMEC	breast:	n/a
27	chr13:55015275-55015325	HEK293	kidney:	embryo
28	chr13:55015275-55015325	GM06990	blood:	n/a
29	chr13:55015549-55015599	SK-N-SH_RA	brain:	n/a
30	chr13:55015549-55015599	GM19239	blood:	n/a
31	chr13:55015275-55015325	MCF10A-Er-Src	breast:	n/a
32	chr13:55015549-55015599	HUVEC	blood vessel:	n/a
33	chr13:55015549-55015599	NH-A	brain:	n/a
34	chr13:55015275-55015325	AG04449	skin:	fetal
35	chr13:55015269-55015319	IMR90	lung:	fetal
36	chr13:55015275-55015325	AG09309	skin:	n/a
37	chr13:55015269-55015319	HEEpiC	esophagus:	n/a
38	chr13:55015275-55015325	HRCEpiC	kidney:	n/a
39	chr13:55015549-55015599	MCF-7	breast:	n/a
40	chr13:55015549-55015599	HCT-116	colon:	n/a
41	chr13:55015549-55015599	HPAEpiC	pulmonary alveolar:	n/a
42	chr13:55015275-55015325	AoSMC	blood vessel:	n/a
43	chr13:55015275-55015325	T-47D	breast:	n/a
44	chr13:55015269-55015319	PrEC	prostate:	n/a
45	chr13:55015549-55015599	HNPCEpiC	eye:	n/a
46	chr13:55015269-55015319	HAEpiC	amniotic membrane:	n/a
47	chr13:55015549-55015599	AG04450	lung:	fetal
48	chr13:55015275-55015325	HRE	kidney:	n/a
49	chr13:55015549-55015599	NHDF-neo	bronchial:	n/a
50	chr13:55015549-55015599	IMR90	lung:	fetal

No data

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

Extended variants
information (count: 311 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553680414	chr13:55006200-55006201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528128410	chr13:55006214-55006215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573408875	chr13:55006217-55006218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373821746	chr13:55006277-55006278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547873743	chr13:55006279-55006280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191355688	chr13:55006281-55006282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55970996	chr13:55006316-55006317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2784882	chr13:55006363-55006364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570740565	chr13:55006367-55006368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373256513	chr13:55006379-55006380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539631477	chr13:55006463-55006464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2784883	chr13:55006466-55006467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573256185	chr13:55006468-55006469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542265425	chr13:55006492-55006493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2785933	chr13:55006516-55006517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113754991	chr13:55006662-55006663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543758886	chr13:55006670-55006671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563550811	chr13:55006688-55006689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565051247	chr13:55006709-55006710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377601030	chr13:55006711-55006712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532381286	chr13:55006722-55006723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545669782	chr13:55006738-55006739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559445010	chr13:55006739-55006740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150743179	chr13:55006742-55006743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548234904	chr13:55006745-55006746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567741224	chr13:55006754-55006755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530405468	chr13:55006758-55006759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184274666	chr13:55006760-55006761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570803167	chr13:55006791-55006792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539693745	chr13:55006795-55006796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143464042	chr13:55007815-55007816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186123678	chr13:55007859-55007860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs58332706	chr13:55007865-55007866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572987604	chr13:55007923-55007924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571850182	chr13:55008046-55008047	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188291242	chr13:55008086-55008087	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17089452	chr13:55008157-55008158	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574995908	chr13:55008172-55008173	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs180769645	chr13:55008204-55008205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563758479	chr13:55008227-55008228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532915872	chr13:55008290-55008291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116818523	chr13:55008300-55008301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370737666	chr13:55008310-55008311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370158825	chr13:55008311-55008312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55964778	chr13:55008312-55008313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185668730	chr13:55008319-55008320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569427362	chr13:55008331-55008332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566917058	chr13:55008338-55008339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9569031	chr13:55008355-55008356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs13378130	chr13:55008368-55008369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55006200-55006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:55007800-55008000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr13:55008000-55008200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:55008200-55008400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:55010600-55012200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:55012200-55016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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