Variant report

Variant	nsv900782
Chromosome Location	chr13:87536247-87658986
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	chr13:87650294-87650417	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr13:87599091-87599291	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr13:87597888-87598181	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr13:87569830-87570107	HepG2	liver:	n/a	chr13:87569929-87569940
7	CEBPB	chr13:87623791-87624024	HepG2	liver:	n/a	chr13:87623853-87623864
8	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
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	chr13:87641387-87641668	H1-hESC	embryonic stem cell:	n/a	chr13:87641504-87641515
11	CEBPB	chr13:87593860-87594049	A549	lung:	n/a	n/a
12	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
13	CEBPB	chr13:87593817-87594091	HepG2	liver:	n/a	n/a
14	CEBPB	chr13:87641137-87641643	HepG2	liver:	n/a	chr13:87641148-87641161 chr13:87641504-87641515 chr13:87641219-87641232 chr13:87641148-87641161
15	CEBPB	chr13:87623746-87623959	A549	lung:	n/a	chr13:87623853-87623864
16	CEBPB	chr13:87546429-87546598	H1-hESC	embryonic stem cell:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
17	CEBPB	chr13:87546354-87546670	Hela-S3	cervix:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
18	CEBPB	chr13:87623720-87624000	IMR90	lung:	n/a	chr13:87623853-87623864
19	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
20	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
21	CEBPB	chr13:87546337-87546663	HepG2	liver:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
22	CEBPB	chr13:87575260-87575510	MCF-7	breast:	n/a	n/a
23	CEBPB	chr13:87597731-87598317	Hela-S3	cervix:	n/a	n/a
24	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
25	CEBPB	chr13:87575160-87575465	MCF-7	breast:	n/a	n/a
26	CEBPB	chr13:87599037-87599123	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr13:87599305-87599344	GM12878	blood:	n/a	n/a
28	CHD2	chr13:87597863-87598181	Hela-S3	cervix:	n/a	n/a
29	CTBP2	chr13:87585062-87585614	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr13:87627280-87627430	HRE	kidney:	n/a	n/a
31	CTCF	chr13:87627280-87627430	NB4	blood:	n/a	n/a
32	CTCF	chr13:87599008-87599240	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr13:87627320-87627470	HMEC	breast:	n/a	n/a
34	CTCF	chr13:87627320-87627470	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr13:87627346-87627445	MCF-7	breast:	n/a	n/a
36	CTCF	chr13:87624940-87625090	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr13:87546736-87546791	GM20000	blood:	n/a	n/a
38	CTCF	chr13:87627279-87627552	IMR90	lung:	n/a	n/a
39	CTCF	chr13:87627317-87627447	MCF-7	breast:	n/a	n/a
40	CTCF	chr13:87599140-87599290	HAc	cerebellar:	n/a	n/a
41	CTCF	chr13:87627340-87627490	HVMF	connective:	n/a	n/a
42	CTCF	chr13:87627348-87627415	Fibrobl	skin:	n/a	n/a
43	CTCF	chr13:87627420-87627570	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr13:87627300-87627450	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr13:87627333-87627472	Medullo	brain:	n/a	n/a
46	CTCF	chr13:87627300-87627450	Caco-2	colon:	n/a	n/a
47	CTCF	chr13:87599040-87599190	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr13:87627320-87627470	Caco-2	colon:	n/a	n/a
49	CTCF	chr13:87627300-87627450	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr13:87627300-87627450	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:87530439..87532752-chr13:87534404..87536619,2	K562	blood:

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

Variant related genes	Relation type
LINC00430	TF binding region

Extended variants
information (count: 2666 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2666 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9301815	chr13:87536247-87536248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542509789	chr13:87536250-87536251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142686221	chr13:87536282-87536283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147358142	chr13:87536299-87536300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112362136	chr13:87536305-87536306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9301816	chr13:87536313-87536314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139526079	chr13:87536324-87536325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572629516	chr13:87536328-87536329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538934360	chr13:87536368-87536369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550555616	chr13:87536373-87536374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73553351	chr13:87536374-87536375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535811690	chr13:87536426-87536427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554122489	chr13:87536443-87536444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143535904	chr13:87536470-87536471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546367034	chr13:87536472-87536473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559114273	chr13:87536566-87536567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564468049	chr13:87536570-87536571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114572307	chr13:87536572-87536573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531807481	chr13:87536578-87536579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371292665	chr13:87536600-87536601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549940320	chr13:87536612-87536613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374038096	chr13:87536631-87536632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561710738	chr13:87536645-87536646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563003781	chr13:87536662-87536663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575059754	chr13:87536670-87536671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542274651	chr13:87536694-87536695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560490371	chr13:87536724-87536725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527829685	chr13:87536756-87536757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552666150	chr13:87536772-87536773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565094261	chr13:87536811-87536812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529171822	chr13:87536858-87536859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374264687	chr13:87536874-87536875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532182236	chr13:87536878-87536879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547241303	chr13:87536943-87536944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7321232	chr13:87536995-87536996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569085099	chr13:87537005-87537006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528392676	chr13:87537015-87537016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182082436	chr13:87537049-87537050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74102001	chr13:87537056-87537057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547822594	chr13:87537067-87537068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114932187	chr13:87537072-87537073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186061225	chr13:87537074-87537075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539288987	chr13:87537127-87537128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199841020	chr13:87537134-87537135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4329789	chr13:87537149-87537150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558338867	chr13:87537150-87537151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571038483	chr13:87537163-87537164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538088450	chr13:87537217-87537218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556697367	chr13:87537254-87537255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575260180	chr13:87537266-87537267	Enhancers	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	22037309	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87535000-87538000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:87535400-87536800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:87535600-87538000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:87536000-87537600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:87536200-87537000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:87537000-87538000	Enhancers	Primary hematopoietic stem cells	blood
7	chr13:87537600-87537800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr13:87537600-87537800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:87537600-87538000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:87538000-87538200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:87538000-87540000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:87538200-87539200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:87539200-87541200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:87541200-87542800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:87542800-87544200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:87544200-87546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:87546600-87547200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:87547200-87558000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:87553000-87553200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr13:87553000-87553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:87553000-87553800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:87553000-87553800	Enhancers	Hela-S3	cervix
23	chr13:87553200-87553400	Enhancers	HMEC	breast
24	chr13:87553600-87553800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr13:87558000-87558200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:87558000-87558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:87558000-87559800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:87558200-87558400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:87558200-87558600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:87558200-87558800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:87558200-87558800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:87558200-87559000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:87558200-87559200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr13:87558200-87559200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:87558200-87560400	Enhancers	Fetal Lung	lung
36	chr13:87558400-87558600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:87558400-87558800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr13:87558400-87559200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:87558600-87559000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:87558800-87561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr13:87559000-87559600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:87559000-87559600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:87559200-87559600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:87559600-87559800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr13:87559600-87560000	Enhancers	Colon Smooth Muscle	Colon
46	chr13:87559600-87560600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:87559600-87561000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr13:87559800-87561800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:87559800-87563000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr13:87560000-87560400	Weak transcription	Colon Smooth Muscle	Colon

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