Variant report

Variant	nsv832671
Chromosome Location	chr13:87539345-87707707
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	chr13:87638730-87639049	HepG2	liver:	n/a	n/a
2	ATF1	chr13:87561569-87561897	K562	blood:	n/a	n/a
3	BACH1	chr13:87599091-87599291	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr13:87650294-87650417	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr13:87597888-87598181	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr13:87546337-87546663	HepG2	liver:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
7	CEBPB	chr13:87666359-87666636	A549	lung:	n/a	chr13:87666512-87666523
8	CEBPB	chr13:87623720-87624000	IMR90	lung:	n/a	chr13:87623853-87623864
9	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
10	CEBPB	chr13:87575160-87575465	MCF-7	breast:	n/a	n/a
11	CEBPB	chr13:87666329-87666691	HepG2	liver:	n/a	chr13:87666512-87666523
12	CEBPB	chr13:87661019-87661251	HepG2	liver:	n/a	chr13:87661130-87661141
13	CEBPB	chr13:87546354-87546670	Hela-S3	cervix:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
14	CEBPB	chr13:87682896-87683192	HepG2	liver:	n/a	chr13:87683043-87683054
15	CEBPB	chr13:87682905-87683111	ECC-1	luminal epithelium:	n/a	chr13:87683043-87683054
16	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
17	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
18	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
19	CEBPB	chr13:87593860-87594049	A549	lung:	n/a	n/a
20	CEBPB	chr13:87682889-87683192	IMR90	lung:	n/a	chr13:87683043-87683054
21	CEBPB	chr13:87546429-87546598	H1-hESC	embryonic stem cell:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
22	CEBPB	chr13:87569830-87570107	HepG2	liver:	n/a	chr13:87569929-87569940
23	CEBPB	chr13:87682904-87683204	Hela-S3	cervix:	n/a	chr13:87683043-87683054
24	CEBPB	chr13:87597731-87598317	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr13:87599037-87599123	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr13:87575260-87575510	MCF-7	breast:	n/a	n/a
27	CEBPB	chr13:87593817-87594091	HepG2	liver:	n/a	n/a
28	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
29	CEBPB	chr13:87641387-87641668	H1-hESC	embryonic stem cell:	n/a	chr13:87641504-87641515
30	CEBPB	chr13:87623791-87624024	HepG2	liver:	n/a	chr13:87623853-87623864
31	CEBPB	chr13:87623746-87623959	A549	lung:	n/a	chr13:87623853-87623864
32	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
33	CEBPB	chr13:87666361-87666662	IMR90	lung:	n/a	chr13:87666512-87666523
34	CEBPB	chr13:87682942-87683171	A549	lung:	n/a	chr13:87683043-87683054
35	CEBPB	chr13:87641137-87641643	HepG2	liver:	n/a	chr13:87641148-87641161 chr13:87641504-87641515 chr13:87641219-87641232 chr13:87641148-87641161
36	CHD2	chr13:87599305-87599344	GM12878	blood:	n/a	n/a
37	CHD2	chr13:87597863-87598181	Hela-S3	cervix:	n/a	n/a
38	CTBP2	chr13:87585062-87585614	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr13:87599042-87599227	Gliobla	brain:	n/a	n/a
40	CTCF	chr13:87627320-87627470	Caco-2	colon:	n/a	n/a
41	CTCF	chr13:87627280-87627430	HepG2	liver:	n/a	n/a
42	CTCF	chr13:87627300-87627450	Caco-2	colon:	n/a	n/a
43	CTCF	chr13:87599008-87599240	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr13:87627300-87627450	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr13:87599140-87599290	HAc	cerebellar:	n/a	n/a
46	CTCF	chr13:87627360-87627510	HVMF	connective:	n/a	n/a
47	CTCF	chr13:87627324-87627482	HepG2	liver:	n/a	n/a
48	CTCF	chr13:87627420-87627570	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr13:87598974-87599298	GM12878	blood:	n/a	n/a
50	CTCF	chr13:87627320-87627470	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:87685458..87688112-chr13:87691152..87694423,3	K562	blood:
2	chr13:87685458..87688112-chr13:87691152..87694423,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-6	chr13:87588831-87589062	XLOC_010461
2	lnc-SLITRK5-6	chr13:87564173-87564236	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: 3175 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3175 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187830979	chr13:87539351-87539352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541018156	chr13:87539409-87539410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537484141	chr13:87539411-87539412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66529494	chr13:87539449-87539450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533235463	chr13:87539502-87539503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192925115	chr13:87539510-87539511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573840816	chr13:87539513-87539514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116903771	chr13:87539681-87539682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183770095	chr13:87539774-87539775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186950004	chr13:87539790-87539791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545802833	chr13:87539793-87539794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564371536	chr13:87539808-87539809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576242295	chr13:87539839-87539840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543471510	chr13:87539844-87539845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534349229	chr13:87539845-87539846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112744685	chr13:87539938-87539939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67717484	chr13:87539939-87539940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10651388	chr13:87539940-87539941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202027316	chr13:87539941-87539942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200174761	chr13:87539942-87539943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561664738	chr13:87540067-87540068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529006227	chr13:87540071-87540072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192474707	chr13:87540079-87540080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553858897	chr13:87540134-87540135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs559719487	chr13:87540142-87540143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145052549	chr13:87540164-87540165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs551664446	chr13:87540169-87540170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570352648	chr13:87540191-87540192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531106381	chr13:87540223-87540224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549018464	chr13:87540229-87540230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs11330429	chr13:87540260-87540261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549005348	chr13:87540269-87540270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567283709	chr13:87540323-87540324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs534798193	chr13:87540326-87540327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375439068	chr13:87540341-87540342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553025051	chr13:87540357-87540358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545020172	chr13:87540429-87540430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577343291	chr13:87540443-87540444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534648625	chr13:87540490-87540491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565755157	chr13:87540500-87540501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs9561085	chr13:87540510-87540511	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557647380	chr13:87540572-87540573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576334764	chr13:87540578-87540579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185030003	chr13:87540600-87540601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555404209	chr13:87540602-87540603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs34387937	chr13:87540624-87540625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573650311	chr13:87540625-87540626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541143328	chr13:87540686-87540687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145782121	chr13:87540705-87540706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148976991	chr13:87540780-87540781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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	22037309	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87538000-87540000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:87539200-87541200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:87541200-87542800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:87542800-87544200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:87544200-87546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:87546600-87547200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:87547200-87558000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:87553000-87553200	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr13:87553000-87553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:87553000-87553800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:87553000-87553800	Enhancers	Hela-S3	cervix
12	chr13:87553200-87553400	Enhancers	HMEC	breast
13	chr13:87553600-87553800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr13:87558000-87558200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:87558000-87558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:87558000-87559800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:87558200-87558400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:87558200-87558600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:87558200-87558800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:87558200-87558800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:87558200-87559000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:87558200-87559200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:87558200-87559200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:87558200-87560400	Enhancers	Fetal Lung	lung
25	chr13:87558400-87558600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:87558400-87558800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr13:87558400-87559200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:87558600-87559000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:87558800-87561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:87559000-87559600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:87559000-87559600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:87559200-87559600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:87559600-87559800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr13:87559600-87560000	Enhancers	Colon Smooth Muscle	Colon
35	chr13:87559600-87560600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:87559600-87561000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:87559800-87561800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr13:87559800-87563000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:87560000-87560400	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:87560400-87560600	Enhancers	Colon Smooth Muscle	Colon
41	chr13:87560400-87561800	Weak transcription	Fetal Lung	lung
42	chr13:87560600-87561600	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:87561000-87562200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:87561400-87561800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr13:87561600-87562000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr13:87561600-87562000	Active TSS	Colon Smooth Muscle	Colon
47	chr13:87561800-87562000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr13:87561800-87562000	Enhancers	Fetal Lung	lung
49	chr13:87562000-87562200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr13:87562000-87563400	Weak transcription	Fetal Lung	lung

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