Variant report

Variant	nsv900784
Chromosome Location	chr13:87546157-87647740
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	BRCA1	chr13:87597888-87598181	Hela-S3	cervix:	n/a	n/a
5	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
6	CEBPB	chr13:87546354-87546670	Hela-S3	cervix:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
7	CEBPB	chr13:87623720-87624000	IMR90	lung:	n/a	chr13:87623853-87623864
8	CEBPB	chr13:87593817-87594091	HepG2	liver:	n/a	n/a
9	CEBPB	chr13:87597731-87598317	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr13:87546429-87546598	H1-hESC	embryonic stem cell:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
11	CEBPB	chr13:87575160-87575465	MCF-7	breast:	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	chr13:87596780-87597505	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
14	CEBPB	chr13:87623746-87623959	A549	lung:	n/a	chr13:87623853-87623864
15	CEBPB	chr13:87546337-87546663	HepG2	liver:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
16	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
17	CEBPB	chr13:87641387-87641668	H1-hESC	embryonic stem cell:	n/a	chr13:87641504-87641515
18	CEBPB	chr13:87623791-87624024	HepG2	liver:	n/a	chr13:87623853-87623864
19	CEBPB	chr13:87599037-87599123	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr13:87569830-87570107	HepG2	liver:	n/a	chr13:87569929-87569940
21	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
22	CEBPB	chr13:87575260-87575510	MCF-7	breast:	n/a	n/a
23	CEBPB	chr13:87593860-87594049	A549	lung:	n/a	n/a
24	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
25	CEBPB	chr13:87641137-87641643	HepG2	liver:	n/a	chr13:87641148-87641161 chr13:87641504-87641515 chr13:87641219-87641232 chr13:87641148-87641161
26	CHD2	chr13:87599305-87599344	GM12878	blood:	n/a	n/a
27	CHD2	chr13:87597863-87598181	Hela-S3	cervix:	n/a	n/a
28	CTBP2	chr13:87585062-87585614	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr13:87596930-87596970	Medullo	brain:	n/a	n/a
30	CTCF	chr13:87627260-87627410	HEK293	kidney:	n/a	n/a
31	CTCF	chr13:87627400-87627550	HAc	cerebellar:	n/a	n/a
32	CTCF	chr13:87627300-87627450	Caco-2	colon:	n/a	n/a
33	CTCF	chr13:87627330-87627448	MCF-7	breast:	n/a	n/a
34	CTCF	chr13:87627316-87627473	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr13:87627348-87627415	Fibrobl	skin:	n/a	n/a
36	CTCF	chr13:87598974-87599298	GM12878	blood:	n/a	n/a
37	CTCF	chr13:87599042-87599227	Gliobla	brain:	n/a	n/a
38	CTCF	chr13:87627346-87627398	LNCaP	prostate:	n/a	n/a
39	CTCF	chr13:87627280-87627430	HRE	kidney:	n/a	n/a
40	CTCF	chr13:87627400-87627550	HMEC	breast:	n/a	n/a
41	CTCF	chr13:87557640-87557790	Caco-2	colon:	n/a	n/a
42	CTCF	chr13:87627300-87627450	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr13:87643138-87643216	GM20000	blood:	n/a	n/a
44	CTCF	chr13:87627340-87627490	HVMF	connective:	n/a	n/a
45	CTCF	chr13:87627320-87627470	AG04450	lung:	n/a	n/a
46	CTCF	chr13:87627300-87627450	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr13:87627340-87627490	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr13:87599080-87599230	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr13:87627280-87627430	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr13:87627320-87627470	Hela-S3	cervix:	n/a	n/a

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

Variant related genes	Relation type
LINC00430	TF binding region

Extended variants
information (count: 2111 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2111 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9561095	chr13:87546157-87546158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527245325	chr13:87546188-87546189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546670658	chr13:87546213-87546214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564236406	chr13:87546243-87546244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180705221	chr13:87546255-87546256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186100542	chr13:87546284-87546285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146904060	chr13:87546296-87546297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536161933	chr13:87546320-87546321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191955759	chr13:87546329-87546330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74103612	chr13:87546374-87546375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76402549	chr13:87546380-87546381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182575201	chr13:87546441-87546442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367622932	chr13:87546458-87546459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114384722	chr13:87546473-87546474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139395134	chr13:87546480-87546481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555942568	chr13:87546555-87546556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374795025	chr13:87546564-87546565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574265084	chr13:87546570-87546571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74103613	chr13:87546576-87546577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554068153	chr13:87546630-87546631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs34942753	chr13:87546637-87546638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545830962	chr13:87546644-87546645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369455219	chr13:87546711-87546712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143044221	chr13:87546735-87546736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs5805415	chr13:87546740-87546741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570356502	chr13:87546799-87546800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562292210	chr13:87546861-87546862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529478546	chr13:87546947-87546948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113344384	chr13:87546974-87546975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186695725	chr13:87547002-87547003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570058099	chr13:87547007-87547008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566408286	chr13:87547021-87547022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533446673	chr13:87547027-87547028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs148210441	chr13:87547047-87547048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537333947	chr13:87547109-87547110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs569664936	chr13:87547128-87547129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537169872	chr13:87547153-87547154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs555407245	chr13:87547156-87547157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567404694	chr13:87547258-87547259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111501237	chr13:87547261-87547262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141207393	chr13:87547264-87547265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572345232	chr13:87547294-87547295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190756227	chr13:87547307-87547308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201763040	chr13:87547332-87547333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386773044	chr13:87547333-87547334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7324982	chr13:87547334-87547335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543560345	chr13:87547337-87547338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561802899	chr13:87547374-87547375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528975403	chr13:87547378-87547379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541648388	chr13:87547381-87547382	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	22037309	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87544200-87546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:87546600-87547200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:87547200-87558000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:87553000-87553200	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr13:87553000-87553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:87553000-87553800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:87553000-87553800	Enhancers	Hela-S3	cervix
8	chr13:87553200-87553400	Enhancers	HMEC	breast
9	chr13:87553600-87553800	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr13:87558000-87558200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:87558000-87558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:87558000-87559800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:87558200-87558400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:87558200-87558600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:87558200-87558800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:87558200-87558800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr13:87558200-87559000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:87558200-87559200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:87558200-87559200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:87558200-87560400	Enhancers	Fetal Lung	lung
21	chr13:87558400-87558600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:87558400-87558800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr13:87558400-87559200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:87558600-87559000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:87558800-87561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr13:87559000-87559600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:87559000-87559600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:87559200-87559600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:87559600-87559800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:87559600-87560000	Enhancers	Colon Smooth Muscle	Colon
31	chr13:87559600-87560600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:87559600-87561000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:87559800-87561800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:87559800-87563000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr13:87560000-87560400	Weak transcription	Colon Smooth Muscle	Colon
36	chr13:87560400-87560600	Enhancers	Colon Smooth Muscle	Colon
37	chr13:87560400-87561800	Weak transcription	Fetal Lung	lung
38	chr13:87560600-87561600	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:87561000-87562200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:87561400-87561800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr13:87561600-87562000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:87561600-87562000	Active TSS	Colon Smooth Muscle	Colon
43	chr13:87561800-87562000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:87561800-87562000	Enhancers	Fetal Lung	lung
45	chr13:87562000-87562200	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr13:87562000-87563400	Weak transcription	Fetal Lung	lung
47	chr13:87569000-87569400	Enhancers	Fetal Lung	lung
48	chr13:87569000-87569600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:87569600-87572800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:87570600-87571200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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