Variant report

Variant	esv274978
Chromosome Location	chr13:38633467-38659853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:38639012-38639232	IMR90	lung:	n/a	n/a
2	CEBPB	chr13:38638998-38639198	K562	blood:	n/a	n/a
3	CTCF	chr13:38633852-38633902	GM20000	blood:	n/a	n/a
4	CTCF	chr13:38651465-38651544	K562	blood:	n/a	n/a
5	CTCF	chr13:38651460-38651610	BE2_C	brain:	n/a	n/a
6	CTCF	chr13:38651450-38651545	LNCaP	prostate:	n/a	n/a
7	CTCF	chr13:38651440-38651590	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr13:38651460-38651610	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr13:38651480-38651630	AG10803	skin:	n/a	n/a
10	CTCF	chr13:38651420-38651570	AG09319	gingival:	n/a	n/a
11	CTCF	chr13:38651458-38651572	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr13:38639947-38640145	MCF-7	breast:	n/a	n/a
13	CTCF	chr13:38651420-38651570	HMF	breast:	n/a	n/a
14	CTCF	chr13:38639960-38640110	MCF-7	breast:	n/a	n/a
15	CTCF	chr13:38639920-38640070	HepG2	liver:	n/a	n/a
16	CTCF	chr13:38651434-38651556	MCF-7	breast:	n/a	n/a
17	CTCF	chr13:38651460-38651610	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr13:38651420-38651570	HMEC	breast:	n/a	n/a
19	CTCF	chr13:38651340-38651490	HMEC	breast:	n/a	n/a
20	CTCF	chr13:38651440-38651590	HVMF	connective:	n/a	n/a
21	CTCF	chr13:38639984-38640142	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:38639947-38640125	MCF-7	breast:	n/a	n/a
23	CTCF	chr13:38651420-38651570	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr13:38651380-38651530	NHEK	skin:	n/a	n/a
25	CTCF	chr13:38651400-38651550	AG09319	gingival:	n/a	n/a
26	CTCF	chr13:38651480-38651630	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr13:38651440-38651590	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr13:38639940-38640090	MCF-7	breast:	n/a	n/a
29	CTCF	chr13:38651400-38651550	SAEC	small airway:	n/a	n/a
30	CTCF	chr13:38639953-38640151	MCF-7	breast:	n/a	n/a
31	CTCF	chr13:38651440-38651590	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr13:38651480-38651630	BJ	skin:	n/a	n/a
33	CTCF	chr13:38639967-38640149	MCF-7	breast:	n/a	n/a
34	CTCF	chr13:38651440-38651590	HMF	breast:	n/a	n/a
35	CTCF	chr13:38651367-38651683	GM12878	blood:	n/a	n/a
36	CTCF	chr13:38651460-38651610	Caco-2	colon:	n/a	n/a
37	CTCF	chr13:38651467-38651575	LNCaP	prostate:	n/a	n/a
38	CTCF	chr13:38651480-38651630	HCFaa	heart:	n/a	n/a
39	CTCF	chr13:38651457-38651560	K562	blood:	n/a	n/a
40	E2F4	chr13:38647452-38647488	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr13:38646118-38646289	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr13:38636936-38637118	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXA2	chr13:38659143-38659400	A549	lung:	n/a	n/a
44	FOXA2	chr13:38639649-38640295	A549	lung:	n/a	n/a
45	FOXA2	chr13:38639728-38640115	A549	lung:	n/a	n/a
46	GTF2F1	chr13:38652124-38652185	H1-hESC	embryonic stem cell:	n/a	n/a
47	IRF1	chr13:38635747-38635814	K562	blood:	n/a	n/a
48	MAX	chr13:38646927-38647123	NB4	blood:	n/a	chr13:38647013-38647023
49	NFYB	chr13:38647008-38647327	GM12878	blood:	n/a	n/a
50	POLR2A	chr13:38648230-38648465	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:
2	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPC4-1	chr13:38648085-38648325	NONHSAT033261
2	lnc-TRPC4-1	chr13:38635533-38635590	NONHSAT033261
3	lnc-TRPC4-1	chr13:38636286-38636371	NONHSAT033261
4	lnc-TRPC4-1	chr13:38635533-38635590	ENSG00000223685
5	lnc-TRPC4-1	chr13:38635533-38635585	ENSG00000223685
6	lnc-TRPC4-1	chr13:38633656-38633845	ENSG00000223685

No data

Variant related genes	Relation type
LINC00571	TF binding region

Extended variants
information (count: 512 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9532151	chr13:38633467-38633468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73452136	chr13:38633488-38633489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557482034	chr13:38633528-38633529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556588801	chr13:38633550-38633551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185880213	chr13:38633561-38633562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192456225	chr13:38633571-38633572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183844203	chr13:38633597-38633598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369124907	chr13:38633620-38633621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201602821	chr13:38633621-38633622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs386378853	chr13:38633627-38633628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371210850	chr13:38633632-38633633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572648317	chr13:38633640-38633641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562059009	chr13:38633655-38633656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539928691	chr13:38633750-38633751	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs541666781	chr13:38633782-38633783	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs146820331	chr13:38633820-38633821	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs533540893	chr13:38633823-38633824	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs550120791	chr13:38633852-38633853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539700554	chr13:38633888-38633889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569948936	chr13:38633908-38633909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573557350	chr13:38633914-38633915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531303871	chr13:38633978-38633979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76687465	chr13:38633998-38633999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567678382	chr13:38634025-38634026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148942065	chr13:38634027-38634028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186105534	chr13:38634076-38634077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570673209	chr13:38634097-38634098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567991527	chr13:38634102-38634103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377608340	chr13:38634146-38634147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371265975	chr13:38634154-38634155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539757421	chr13:38634210-38634211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143574127	chr13:38634221-38634222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150980783	chr13:38634236-38634237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564028235	chr13:38634312-38634313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74952418	chr13:38634386-38634387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572423495	chr13:38634445-38634446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541089050	chr13:38634446-38634447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1924183	chr13:38634451-38634452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578175633	chr13:38634578-38634579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552809484	chr13:38634625-38634626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77203418	chr13:38634663-38634664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563531955	chr13:38634664-38634665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575770946	chr13:38634677-38634678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140900403	chr13:38634685-38634686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56320674	chr13:38634689-38634690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs561471727	chr13:38634701-38634702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190568412	chr13:38634731-38634732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547063867	chr13:38634776-38634777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570458256	chr13:38634827-38634828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539347588	chr13:38634851-38634852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38620200-38633600	Weak transcription	Pancreas	Pancrea
2	chr13:38621600-38633600	Weak transcription	Aorta	Aorta
3	chr13:38633600-38633800	ZNF genes & repeats	Aorta	Aorta
4	chr13:38633600-38633800	ZNF genes & repeats	Pancreas	Pancrea
5	chr13:38633800-38634000	Weak transcription	Pancreas	Pancrea
6	chr13:38633800-38635000	Weak transcription	Aorta	Aorta
7	chr13:38635000-38635200	ZNF genes & repeats	Aorta	Aorta
8	chr13:38645800-38646000	ZNF genes & repeats	Gastric	stomach
9	chr13:38648200-38648600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:38649800-38651800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:38650600-38650800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:38653200-38654400	Weak transcription	Gastric	stomach
13	chr13:38654400-38654600	ZNF genes & repeats	Gastric	stomach
14	chr13:38654600-38659800	Weak transcription	Gastric	stomach
15	chr13:38657600-38659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:38658600-38659000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:38659000-38660800	Weak transcription	Pancreas	Pancrea
18	chr13:38659800-38661600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:38659800-38661800	ZNF genes & repeats	Gastric	stomach

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