Variant report

Variant	esv2751155
Chromosome Location	chr13:86612899-86740599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:247)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:247 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
2	CEBPB	chr13:86630656-86630913	A549	lung:	n/a	chr13:86630756-86630767
3	CEBPB	chr13:86686654-86686949	IMR90	lung:	n/a	chr13:86686791-86686802
4	CEBPB	chr13:86686733-86686933	H1-hESC	embryonic stem cell:	n/a	chr13:86686791-86686802
5	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
6	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
7	CEBPB	chr13:86686647-86686917	A549	lung:	n/a	chr13:86686791-86686802
8	CEBPB	chr13:86686664-86686974	HepG2	liver:	n/a	chr13:86686791-86686802
9	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
10	CEBPB	chr13:86702057-86702340	HepG2	liver:	n/a	chr13:86702099-86702112 chr13:86702227-86702238
11	CEBPB	chr13:86630585-86630894	HepG2	liver:	n/a	chr13:86630756-86630767
12	CTCF	chr13:86660212-86660260	GM10248	blood:	n/a	n/a
13	CTCF	chr13:86660100-86660250	HAc	cerebellar:	n/a	n/a
14	CTCF	chr13:86660140-86660290	AG09319	gingival:	n/a	n/a
15	CTCF	chr13:86660020-86660170	MCF-7	breast:	n/a	n/a
16	CTCF	chr13:86660189-86660256	Lung_OC	lung:	n/a	n/a
17	CTCF	chr13:86660160-86660310	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr13:86660140-86660290	BE2_C	brain:	n/a	n/a
19	CTCF	chr13:86660111-86660337	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr13:86660160-86660310	HRE	kidney:	n/a	n/a
21	CTCF	chr13:86660120-86660270	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr13:86660180-86660330	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr13:86660080-86660230	BE2_C	brain:	n/a	n/a
24	CTCF	chr13:86660080-86660230	HMEC	breast:	n/a	n/a
25	CTCF	chr13:86660120-86660270	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr13:86660140-86660290	RPTEC	kidney:	n/a	n/a
27	CTCF	chr13:86660086-86660343	IMR90	lung:	n/a	n/a
28	CTCF	chr13:86679593-86679646	GM10248	blood:	n/a	n/a
29	CTCF	chr13:86683820-86683970	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr13:86660118-86660302	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr13:86660116-86660317	LNCaP	prostate:	n/a	n/a
32	CTCF	chr13:86660200-86660350	HPF	lung:	n/a	n/a
33	CTCF	chr13:86660060-86660210	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr13:86660100-86660250	HMEC	breast:	n/a	n/a
35	CTCF	chr13:86660108-86660332	Medullo	brain:	n/a	n/a
36	CTCF	chr13:86660054-86660376	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr13:86660120-86660270	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr13:86660200-86660234	GM13977	blood:	n/a	n/a
39	CTCF	chr13:86660140-86660290	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr13:86660120-86660270	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr13:86644139-86644206	GM10266	blood:	n/a	n/a
42	CTCF	chr13:86660160-86660310	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr13:86660051-86660397	GM12878	blood:	n/a	n/a
44	CTCF	chr13:86621211-86621253	GM20000	blood:	n/a	n/a
45	CTCF	chr13:86660136-86660297	LNCaP	prostate:	n/a	n/a
46	CTCF	chr13:86660120-86660270	HPF	lung:	n/a	n/a
47	CTCF	chr13:86660120-86660270	SAEC	small airway:	n/a	n/a
48	CTCF	chr13:86658940-86659090	GM12872	blood:	n/a	n/a
49	CTCF	chr13:86660102-86660443	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr13:86702651-86702681	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:86660097..86660644-chr13:87926317..87926878,2	MCF-7	breast:
2	chr13:86659949..86660780-chr13:87926156..87926672,2	MCF-7	breast:
3	chr13:86659406..86660238-chr13:87098032..87098996,2	MCF-7	breast:
4	chr13:86659938..86660554-chr9:128222217..128222943,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-25	chr13:86645552-86645612	NONHSAT034574
2	lnc-SLITRK5-25	chr13:86641833-86642021	NONHSAT034574
3	lnc-SLITRK5-10	chr13:86646962-86647061	ENSG00000232252
4	lnc-SLITRK5-10	chr13:86634948-86634995	ENSG00000232252

No data

Variant related genes	Relation type
ENSG00000232252	TF binding region

Extended variants
information (count: 415 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540796319	chr13:86613413-86613414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80225169	chr13:86613451-86613452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533084484	chr13:86613461-86613462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191647978	chr13:86613475-86613476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569716786	chr13:86613500-86613501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139757306	chr13:86613503-86613504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9594107	chr13:86613547-86613548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147875449	chr13:86613564-86613565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541002617	chr13:86613582-86613583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534891929	chr13:86613591-86613592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533293455	chr13:86613609-86613610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55649717	chr13:86613625-86613626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536772220	chr13:86613641-86613642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs5805389	chr13:86613691-86613692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397703346	chr13:86613692-86613693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111747373	chr13:86613713-86613714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9602974	chr13:86613816-86613817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182958946	chr13:86613866-86613867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73536881	chr13:86613884-86613885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542580665	chr13:86613889-86613890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554866941	chr13:86613920-86613921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79950177	chr13:86613956-86613957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540557593	chr13:86613969-86613970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565515170	chr13:86613977-86613978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532595338	chr13:86613984-86613985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545090448	chr13:86613996-86613997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372757729	chr13:86624864-86624865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536667904	chr13:86624899-86624900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543543396	chr13:86624923-86624924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141770473	chr13:86625016-86625017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573908014	chr13:86625040-86625041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75799654	chr13:86625044-86625045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147085065	chr13:86625084-86625085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74102174	chr13:86625143-86625144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545230069	chr13:86625165-86625166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372670059	chr13:86625200-86625201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143912851	chr13:86625210-86625211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543271111	chr13:86625278-86625279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147159650	chr13:86625280-86625281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185232460	chr13:86625295-86625296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568057510	chr13:86625328-86625329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533743188	chr13:86625380-86625381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75665275	chr13:86625416-86625417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35377825	chr13:86625433-86625434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576848425	chr13:86625437-86625438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539332498	chr13:86625449-86625450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74814729	chr13:86625479-86625480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544261291	chr13:86625480-86625481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562261566	chr13:86625489-86625490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs207474156	chr13:86625506-86625507	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	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
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86613400-86613800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:86613600-86614000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:86624800-86625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:86625200-86625600	Enhancers	A549	lung
5	chr13:86625200-86625800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:86625400-86626200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:86625600-86626200	Enhancers	Hela-S3	cervix
8	chr13:86626200-86627800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:86627200-86627600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:86633400-86633800	Enhancers	Fetal Heart	heart
11	chr13:86640600-86641600	Enhancers	Fetal Lung	lung
12	chr13:86668400-86671000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:86694000-86694800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:86730000-86730800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:86730400-86731200	Enhancers	HUES64 Cell Line	embryonic stem cell

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