Variant report

Variant	esv2763047
Chromosome Location	chr13:88014116-88062070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:88020044-88020116	GM20000	blood:	n/a	n/a
2	CTCF	chr13:88050356-88050608	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr13:88050408-88050589	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr13:88050469-88050532	Medullo	brain:	n/a	n/a
5	CTCF	chr13:88057250-88057450	GM12878	blood:	n/a	n/a
6	CTCF	chr13:88050400-88050550	HAc	cerebellar:	n/a	n/a
7	CTCF	chr13:88050400-88050550	RPTEC	kidney:	n/a	n/a
8	CTCF	chr13:88033720-88033870	NB4	blood:	n/a	n/a
9	CTCF	chr13:88050482-88050517	HepG2	liver:	n/a	n/a
10	CTCF	chr13:88057280-88057430	RPTEC	kidney:	n/a	n/a
11	CTCF	chr13:88050360-88050510	RPTEC	kidney:	n/a	n/a
12	CTCF	chr13:88018772-88018811	GM20000	blood:	n/a	n/a
13	CTCF	chr13:88048420-88048570	GM12867	blood:	n/a	n/a
14	CTCF	chr13:88050460-88050610	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr13:88050400-88050550	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr13:88050456-88050519	Hela-S3	cervix:	n/a	n/a
17	E2F4	chr13:88060491-88060691	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr13:88022788-88022988	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr13:88044835-88044852	GM12878	blood:	n/a	n/a
20	FOXA2	chr13:88020326-88020843	A549	lung:	n/a	n/a
21	JUN	chr13:88035530-88035590	HepG2	liver:	n/a	n/a
22	JUND	chr13:88035504-88035746	HepG2	liver:	n/a	n/a
23	JUND	chr13:88028435-88028638	HepG2	liver:	n/a	n/a
24	KAP1	chr13:88020684-88020937	HEK293	kidney:	n/a	n/a
25	MAFF	chr13:88051768-88051978	HepG2	liver:	n/a	n/a
26	MAFF	chr13:88045694-88045899	K562	blood:	n/a	chr13:88045811-88045829
27	MAFF	chr13:88045634-88045957	HepG2	liver:	n/a	chr13:88045811-88045829
28	MAFK	chr13:88045640-88045976	HepG2	liver:	n/a	chr13:88045812-88045827
29	MAFK	chr13:88033946-88033985	Hela-S3	cervix:	n/a	n/a
30	MAFK	chr13:88045658-88045971	HepG2	liver:	n/a	chr13:88045812-88045827
31	MAFK	chr13:88051748-88052001	HepG2	liver:	n/a	n/a
32	MAFK	chr13:88051705-88052030	HepG2	liver:	n/a	n/a
33	MAFK	chr13:88023983-88024123	HepG2	liver:	n/a	n/a
34	MAX	chr13:88038420-88038513	NB4	blood:	n/a	n/a
35	NRF1	chr13:88056398-88056447	GM12878	blood:	n/a	n/a
36	NRF1	chr13:88041052-88041078	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr13:88047499-88047540	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr13:88020899-88021012	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr13:88034303-88034496	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr13:88033731-88033750	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr13:88045695-88045805	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr13:88020891-88020895	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr13:88020793-88020991	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr13:88060653-88060759	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr13:88014482-88014668	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr13:88044906-88045090	MCF10A-Er-Src	breast:	n/a	n/a
47	RAD21	chr13:88050334-88050719	H1-hESC	embryonic stem cell:	n/a	chr13:88050690-88050697
48	RAD21	chr13:88050279-88050759	H1-hESC	embryonic stem cell:	n/a	chr13:88050690-88050697
49	RAD21	chr13:88050400-88050628	SK-N-SH_RA	brain:	n/a	n/a
50	RAD21	chr13:88050307-88050703	ECC-1	luminal epithelium:	n/a	chr13:88050690-88050697

Variant related genes	Relation type
LIN28AP2	TF binding region

Extended variants
information (count: 1340 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16954063	chr13:88014116-88014117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183681737	chr13:88014119-88014120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539798099	chr13:88014129-88014130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75297715	chr13:88014132-88014133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187860210	chr13:88014135-88014136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114972825	chr13:88014172-88014173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191480221	chr13:88014178-88014179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118055426	chr13:88014244-88014245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542083155	chr13:88014274-88014275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560271943	chr13:88014293-88014294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527370536	chr13:88014316-88014317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552266353	chr13:88014320-88014321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559545245	chr13:88014325-88014326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563887529	chr13:88014383-88014384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148697266	chr13:88014401-88014402	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550059785	chr13:88014440-88014441	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371545276	chr13:88014479-88014480	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535638451	chr13:88014522-88014523	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116545617	chr13:88014543-88014544	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115499662	chr13:88014544-88014545	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141413104	chr13:88014548-88014549	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558241260	chr13:88014557-88014558	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182238454	chr13:88014562-88014563	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537496534	chr13:88014599-88014600	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374294870	chr13:88014644-88014645	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556485814	chr13:88014676-88014677	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533315061	chr13:88014677-88014678	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574818118	chr13:88014678-88014679	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147467709	chr13:88014742-88014743	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78779303	chr13:88014756-88014757	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79494118	chr13:88014772-88014773	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78727403	chr13:88014798-88014799	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76842615	chr13:88014851-88014852	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139933284	chr13:88014883-88014884	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549651495	chr13:88014890-88014891	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186897982	chr13:88014981-88014982	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200038779	chr13:88014990-88014991	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562023049	chr13:88014994-88014995	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529515517	chr13:88014996-88014997	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547699750	chr13:88015019-88015020	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566100113	chr13:88015031-88015032	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145450356	chr13:88015032-88015033	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551579260	chr13:88015045-88015046	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147290263	chr13:88015078-88015079	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140907164	chr13:88015103-88015104	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192506702	chr13:88015110-88015111	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113232609	chr13:88015113-88015114	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189074078	chr13:88015135-88015136	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554113738	chr13:88015142-88015143	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192848151	chr13:88015157-88015158	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-small cell lung cancer	16651412	CNVD
Glioma	20126413	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	chr13:88013800-88014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:88014400-88015200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:88015200-88025000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:88020600-88021200	Active TSS	Hela-S3	cervix
5	chr13:88025000-88026200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:88026200-88038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:88038400-88039200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:88056200-88056800	Enhancers	Liver	Liver
9	chr13:88059400-88060000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:88060000-88062000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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