Variant report

Variant	nsv900749
Chromosome Location	chr13:86529275-86628241
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	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
4	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
5	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
7	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
8	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
9	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
10	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
12	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
13	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
14	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
15	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
16	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
17	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
18	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
19	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
20	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
21	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
22	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
24	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
25	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
26	CTCF	chr13:86599186-86599263	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
28	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
29	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
30	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
31	CTCF	chr13:86621211-86621253	GM20000	blood:	n/a	n/a
32	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
33	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
34	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
35	CTCF	chr13:86599196-86599277	Lung_OC	lung:	n/a	n/a
36	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
37	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
38	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
39	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
40	CTCF	chr13:86608152-86608211	GM20000	blood:	n/a	n/a
41	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
43	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
44	CTCF	chr13:86541320-86541470	GM12872	blood:	n/a	n/a
45	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
46	CTCF	chr13:86551060-86551210	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
48	CTCF	chr13:86599192-86599250	Medullo	brain:	n/a	n/a
49	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
50	CTCF	chr13:86551143-86551216	LNCaP	prostate:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571
2	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
3	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 1428 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1428 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137880441	chr13:86537635-86537636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9602896	chr13:86537684-86537685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9602897	chr13:86537711-86537712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113571745	chr13:86537729-86537730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71445358	chr13:86537783-86537784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372571790	chr13:86537794-86537795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71445359	chr13:86537795-86537796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557325524	chr13:86538000-86538001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369543797	chr13:86538027-86538028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9602898	chr13:86538049-86538050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9602899	chr13:86538071-86538072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555187602	chr13:86538075-86538076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192567391	chr13:86538266-86538267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540764408	chr13:86538301-86538302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559339678	chr13:86538352-86538353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9602900	chr13:86538353-86538354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs201181788	chr13:86538365-86538366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201468535	chr13:86538407-86538408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545288897	chr13:86538432-86538433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9602901	chr13:86538443-86538444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530632011	chr13:86538548-86538549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185053828	chr13:86538579-86538580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77129512	chr13:86538589-86538590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79934257	chr13:86538590-86538591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567122619	chr13:86538598-86538599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144320141	chr13:86538643-86538644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527515378	chr13:86538646-86538647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7318134	chr13:86538725-86538726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571621856	chr13:86538729-86538730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140846884	chr13:86538736-86538737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570497061	chr13:86538793-86538794	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs71442109	chr13:86538838-86538839	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190157692	chr13:86538846-86538847	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192993966	chr13:86538882-86538883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs530872637	chr13:86538918-86538919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs28372472	chr13:86538965-86538966	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs184845988	chr13:86538980-86538981	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs189607382	chr13:86539007-86539008	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541129568	chr13:86539046-86539047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552745783	chr13:86539116-86539117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144718074	chr13:86539122-86539123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544641726	chr13:86539140-86539141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550596278	chr13:86539160-86539161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562927335	chr13:86539169-86539170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530762531	chr13:86539175-86539176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542506197	chr13:86539186-86539187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180672795	chr13:86539210-86539211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528230258	chr13:86539246-86539247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547093028	chr13:86539281-86539282	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs61968768	chr13:86539327-86539328	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Bipolar disorder	19114987	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
4	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
12	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
15	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
16	chr13:86548800-86549400	Enhancers	HMEC	breast
17	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:86549000-86549400	Enhancers	NH-A	brain
20	chr13:86549200-86549600	Active TSS	Right Atrium	heart
21	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
28	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:86569800-86570400	Active TSS	A549	lung
32	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
33	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:86576600-86578000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:86576800-86577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:86580400-86580800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr13:86580400-86581200	Enhancers	Fetal Lung	lung
38	chr13:86581200-86586200	Weak transcription	Fetal Lung	lung
39	chr13:86585600-86587000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:86586200-86586600	Enhancers	Fetal Lung	lung
41	chr13:86590400-86590600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:86590600-86591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:86591200-86593200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:86591400-86591600	Enhancers	Fetal Lung	lung
45	chr13:86591600-86593800	Weak transcription	Fetal Lung	lung
46	chr13:86593200-86593600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:86593600-86595600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:86593600-86596600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:86593800-86598400	Enhancers	Fetal Lung	lung
50	chr13:86594200-86594400	Enhancers	Hela-S3	cervix

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