Variant report

Variant	nsv900780
Chromosome Location	chr13:87492357-87624393
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	ARID3A	chr13:87522825-87522873	K562	blood:	n/a	n/a
2	ATF1	chr13:87534480-87534795	K562	blood:	n/a	n/a
3	ATF1	chr13:87535053-87535541	K562	blood:	n/a	n/a
4	ATF1	chr13:87561569-87561897	K562	blood:	n/a	n/a
5	ATF2	chr13:87534270-87534796	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr13:87533625-87533952	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr13:87534377-87534846	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr13:87599091-87599291	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr13:87533665-87533941	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr13:87597888-87598181	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr13:87535109-87535399	K562	blood:	n/a	n/a
12	CEBPB	chr13:87596795-87597091	A549	lung:	n/a	chr13:87596913-87596922 chr13:87596913-87596922 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87596913-87596922
13	CEBPB	chr13:87534327-87534679	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr13:87546337-87546663	HepG2	liver:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
15	CEBPB	chr13:87558087-87558399	IMR90	lung:	n/a	chr13:87558216-87558229 chr13:87558218-87558229 chr13:87558218-87558227 chr13:87558218-87558227 chr13:87558218-87558227 chr13:87558218-87558227
16	CEBPB	chr13:87525573-87525763	HepG2	liver:	n/a	chr13:87525610-87525621
17	CEBPB	chr13:87575260-87575510	MCF-7	breast:	n/a	n/a
18	CEBPB	chr13:87593860-87594049	A549	lung:	n/a	n/a
19	CEBPB	chr13:87593817-87594091	HepG2	liver:	n/a	n/a
20	CEBPB	chr13:87599037-87599123	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr13:87596748-87597517	IMR90	lung:	n/a	chr13:87597373-87597386 chr13:87596913-87596922 chr13:87596913-87596922 chr13:87597375-87597386 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87597375-87597386 chr13:87597373-87597386 chr13:87596913-87596922
22	CEBPB	chr13:87575160-87575465	MCF-7	breast:	n/a	n/a
23	CEBPB	chr13:87623720-87624000	IMR90	lung:	n/a	chr13:87623853-87623864
24	CEBPB	chr13:87596743-87597505	HepG2	liver:	n/a	chr13:87597373-87597386 chr13:87596913-87596922 chr13:87596913-87596922 chr13:87597375-87597386 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87597375-87597386 chr13:87597373-87597386 chr13:87596913-87596922
25	CEBPB	chr13:87569830-87570107	HepG2	liver:	n/a	chr13:87569929-87569940
26	CEBPB	chr13:87623791-87624024	HepG2	liver:	n/a	chr13:87623853-87623864
27	CEBPB	chr13:87509486-87509874	IMR90	lung:	n/a	n/a
28	CEBPB	chr13:87546354-87546670	Hela-S3	cervix:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
29	CEBPB	chr13:87528428-87528706	HepG2	liver:	n/a	n/a
30	CEBPB	chr13:87535120-87535586	HepG2	liver:	n/a	chr13:87535277-87535288
31	CEBPB	chr13:87535059-87535367	K562	blood:	n/a	chr13:87535277-87535288
32	CEBPB	chr13:87596780-87597505	Hela-S3	cervix:	n/a	chr13:87597373-87597386 chr13:87596913-87596922 chr13:87596913-87596922 chr13:87597375-87597386 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87597375-87597386 chr13:87597373-87597386 chr13:87596913-87596922
33	CEBPB	chr13:87533644-87534006	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr13:87535123-87535452	K562	blood:	n/a	chr13:87535277-87535288
35	CEBPB	chr13:87596830-87597421	H1-hESC	embryonic stem cell:	n/a	chr13:87597373-87597386 chr13:87596913-87596922 chr13:87596913-87596922 chr13:87597375-87597386 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87597375-87597386 chr13:87597373-87597386 chr13:87596913-87596922
36	CEBPB	chr13:87597731-87598317	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr13:87623746-87623959	A549	lung:	n/a	chr13:87623853-87623864
38	CEBPB	chr13:87546429-87546598	H1-hESC	embryonic stem cell:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
39	CHD1	chr13:87534405-87534566	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr13:87534426-87534744	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr13:87597863-87598181	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr13:87599305-87599344	GM12878	blood:	n/a	n/a
43	CTBP2	chr13:87585062-87585614	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr13:87522720-87522870	Caco-2	colon:	n/a	chr13:87522807-87522820 chr13:87522806-87522827 chr13:87522804-87522822 chr13:87522807-87522815
45	CTCF	chr13:87610173-87610197	GM10266	blood:	n/a	n/a
46	CTCF	chr13:87522760-87522910	Hela-S3	cervix:	n/a	chr13:87522807-87522820 chr13:87522806-87522827 chr13:87522804-87522822 chr13:87522807-87522815
47	CTCF	chr13:87522840-87522990	HCT-116	colon:	n/a	n/a
48	CTCF	chr13:87522700-87522850	GM12865	blood:	n/a	chr13:87522807-87522820 chr13:87522806-87522827 chr13:87522804-87522822 chr13:87522807-87522815
49	CTCF	chr13:87522740-87522890	Hela-S3	cervix:	n/a	chr13:87522807-87522820 chr13:87522806-87522827 chr13:87522804-87522822 chr13:87522807-87522815
50	CTCF	chr13:87522780-87522930	HBMEC	blood vessel:	n/a	chr13:87522807-87522820 chr13:87522806-87522827 chr13:87522804-87522822 chr13:87522807-87522815

No.	Distal block	Cell Line	Cell type
1	chr13:87530439..87532752-chr13:87534404..87536619,2	K562	blood:
2	chr13:87530439..87532752-chr13:87534404..87536619,2	K562	blood:
3	chr13:87522311..87523294-chr13:87926162..87927045,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-6	chr13:87564173-87564236	XLOC_010461
2	lnc-SLITRK5-6	chr13:87588831-87589062	XLOC_010461
3	lnc-SLITRK5-6	chr13:87588831-87589271	ENSG00000233528.3
4	lnc-SLITRK5-6	chr13:87564173-87564236	ENSG00000233528.3

Variant related genes	Relation type
LINC00430	TF binding region

Extended variants
information (count: 3087 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3087 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9589419	chr13:87492357-87492358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181466646	chr13:87492401-87492402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141270004	chr13:87492402-87492403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9589420	chr13:87492424-87492425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186106357	chr13:87492432-87492433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528508249	chr13:87492453-87492454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546648964	chr13:87492487-87492488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571716146	chr13:87492508-87492509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538716183	chr13:87492543-87492544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9560915	chr13:87492560-87492561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569563480	chr13:87492618-87492619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74101976	chr13:87492623-87492624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75260706	chr13:87492655-87492656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555277875	chr13:87492669-87492670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573565202	chr13:87492683-87492684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74101977	chr13:87492704-87492705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552649759	chr13:87492709-87492710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369957358	chr13:87492761-87492762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376571654	chr13:87492788-87492789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577680093	chr13:87492816-87492817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116145953	chr13:87492839-87492840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563349652	chr13:87492855-87492856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373771854	chr13:87492876-87492877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531161449	chr13:87492882-87492883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543206358	chr13:87492915-87492916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376200674	chr13:87492963-87492964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528732945	chr13:87492979-87492980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74446196	chr13:87492980-87492981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59218190	chr13:87492989-87492990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532533957	chr13:87492990-87492991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77833623	chr13:87493035-87493036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77946720	chr13:87493039-87493040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536864641	chr13:87493055-87493056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548742353	chr13:87493056-87493057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142126346	chr13:87493062-87493063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567230230	chr13:87493066-87493067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534575777	chr13:87493092-87493093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553225009	chr13:87493104-87493105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71442156	chr13:87493114-87493115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577592120	chr13:87493115-87493116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191404826	chr13:87493150-87493151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117840426	chr13:87493166-87493167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575379931	chr13:87493174-87493175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543245283	chr13:87493221-87493222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183170515	chr13:87493228-87493229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573375030	chr13:87493233-87493234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574300106	chr13:87493242-87493243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150885248	chr13:87493259-87493260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138311617	chr13:87493262-87493263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535306000	chr13:87493285-87493286	Weak 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
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
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87489000-87492400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:87491400-87498400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:87492400-87492800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:87498200-87499200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:87498200-87499200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:87498200-87499800	Enhancers	HMEC	breast
7	chr13:87498400-87499000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr13:87508600-87509000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:87508800-87509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:87514200-87514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:87515800-87517000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:87516200-87517000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:87520400-87520600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:87520600-87521200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:87521200-87523400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:87521400-87523200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:87521800-87522800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:87521800-87523400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:87522600-87522800	Enhancers	Liver	Liver
20	chr13:87522800-87523200	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:87522800-87523200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:87522800-87523200	Flanking Active TSS	Liver	Liver
23	chr13:87522800-87523200	Enhancers	Brain Anterior Caudate	brain
24	chr13:87522800-87523200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr13:87522800-87523600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:87523000-87523200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:87523000-87523200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:87523000-87523400	Enhancers	Fetal Brain Male	brain
29	chr13:87523200-87523600	Enhancers	Liver	Liver
30	chr13:87523200-87524600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr13:87523200-87524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:87523400-87525600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:87523400-87525600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:87523600-87524800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:87524600-87525200	Enhancers	Primary hematopoietic stem cells	blood
36	chr13:87524600-87525200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:87524800-87525200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:87525200-87529600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:87525600-87525800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:87525600-87526000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:87526000-87526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:87529600-87530200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:87529600-87530200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:87530200-87532200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:87530200-87532800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:87532200-87534200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:87532800-87534000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:87533000-87536200	Enhancers	Primary hematopoietic stem cells	blood
49	chr13:87533400-87534200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr13:87533400-87535600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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