Variant report

Variant	nsv900740
Chromosome Location	chr13:86449302-86911159
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	BACH1	chr13:86468449-86468546	K562	blood:	n/a	n/a
2	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
4	CEBPB	chr13:86686733-86686933	H1-hESC	embryonic stem cell:	n/a	chr13:86686791-86686802
5	CEBPB	chr13:86630656-86630913	A549	lung:	n/a	chr13:86630756-86630767
6	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
7	CEBPB	chr13:86630585-86630894	HepG2	liver:	n/a	chr13:86630756-86630767
8	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
9	CEBPB	chr13:86449847-86450054	IMR90	lung:	n/a	chr13:86449887-86449898
10	CEBPB	chr13:86751110-86751310	IMR90	lung:	n/a	n/a
11	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
12	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
14	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
16	CEBPB	chr13:86702057-86702340	HepG2	liver:	n/a	chr13:86702099-86702112 chr13:86702227-86702238
17	CEBPB	chr13:86449776-86450036	HepG2	liver:	n/a	chr13:86449887-86449898
18	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
19	CEBPB	chr13:86686664-86686974	HepG2	liver:	n/a	chr13:86686791-86686802
20	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
21	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
23	CEBPB	chr13:86449880-86449925	H1-hESC	embryonic stem cell:	n/a	chr13:86449887-86449898
24	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
25	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
26	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
27	CEBPB	chr13:86686647-86686917	A549	lung:	n/a	chr13:86686791-86686802
28	CEBPB	chr13:86686654-86686949	IMR90	lung:	n/a	chr13:86686791-86686802
29	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
30	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
31	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
32	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
33	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
34	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
35	CTCF	chr13:86660160-86660310	HRE	kidney:	n/a	n/a
36	CTCF	chr13:86471320-86471470	Caco-2	colon:	n/a	n/a
37	CTCF	chr13:86748840-86748990	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr13:86471268-86471486	HepG2	liver:	n/a	n/a
39	CTCF	chr13:86471380-86471530	Caco-2	colon:	n/a	n/a
40	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
41	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
42	CTCF	chr13:86471315-86471501	LNCaP	prostate:	n/a	n/a
43	CTCF	chr13:86471300-86471450	GM12878	blood:	n/a	n/a
44	CTCF	chr13:86748831-86749051	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr13:86471340-86471490	SAEC	small airway:	n/a	n/a
46	CTCF	chr13:86748880-86749002	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr13:86748900-86749050	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr13:86660051-86660397	GM12878	blood:	n/a	n/a
49	CTCF	chr13:86471320-86471470	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr13:86471320-86471470	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:86659406..86660238-chr13:87098032..87098996,2	MCF-7	breast:
2	chr13:86659949..86660780-chr13:87926156..87926672,2	MCF-7	breast:
3	chr13:86660097..86660644-chr13:87926317..87926878,2	MCF-7	breast:
4	chr13:86659938..86660554-chr9:128222217..128222943,2	MCF-7	breast:
5	chr13:86748899..86749431-chr13:87116065..87116706,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
2	lnc-SLITRK5-10	chr13:86646962-86647061	ENSG00000232252
3	lnc-SLITRK5-25	chr13:86641833-86642021	NONHSAT034574
4	lnc-SLITRK6-13	chr13:86894248-86895386	NONHSAT034575
5	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572
6	lnc-SLITRK6-13	chr13:86897352-86897489	NONHSAT034575
7	lnc-SLITRK5-10	chr13:86634948-86634995	ENSG00000232252
8	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571
9	lnc-SLITRK5-10	chr13:86744980-86745025	ENSG00000232252
10	lnc-SLITRK5-25	chr13:86645552-86645612	NONHSAT034574

Variant related genes	Relation type
MOB1AP1	TF binding region
ENSG00000232252	TF binding region

Extended variants
information (count: 3106 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3106 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573920104	chr13:86461413-86461414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1169353	chr13:86461429-86461430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs572116016	chr13:86461576-86461577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9602863	chr13:86461599-86461600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1169352	chr13:86461603-86461604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74102126	chr13:86461654-86461655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576704083	chr13:86461660-86461661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80108788	chr13:86461721-86461722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149814712	chr13:86461847-86461848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529464915	chr13:86461849-86461850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370458273	chr13:86461892-86461893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186730054	chr13:86461950-86461951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560251516	chr13:86462003-86462004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190780454	chr13:86462017-86462018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182965889	chr13:86462028-86462029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201605852	chr13:86462039-86462040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187712083	chr13:86462053-86462054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569572388	chr13:86462055-86462056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59002275	chr13:86462069-86462070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531542201	chr13:86462127-86462128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372248743	chr13:86462132-86462133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550027733	chr13:86462167-86462168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145764085	chr13:86462177-86462178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192581247	chr13:86462187-86462188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35658751	chr13:86462188-86462189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376771568	chr13:86462198-86462199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565881017	chr13:86462216-86462217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111328123	chr13:86462246-86462247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148948391	chr13:86462256-86462257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576361260	chr13:86462258-86462259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55800255	chr13:86462290-86462291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373531152	chr13:86462295-86462296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555994868	chr13:86462343-86462344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574163107	chr13:86462370-86462371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183317762	chr13:86470220-86470221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9547426	chr13:86470294-86470295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529147596	chr13:86470331-86470332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188674327	chr13:86470358-86470359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191019569	chr13:86470370-86470371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76683963	chr13:86470381-86470382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533128548	chr13:86470382-86470383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148030014	chr13:86470399-86470400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182652742	chr13:86470453-86470454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530886271	chr13:86470500-86470501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187340635	chr13:86470523-86470524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142483721	chr13:86470561-86470562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568009950	chr13:86470563-86470564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535327894	chr13:86470564-86470565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191349654	chr13:86470626-86470627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571718672	chr13:86470639-86470640	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	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
Gastric adenocarcinoma	19115996	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86461400-86462000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:86461400-86462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:86470200-86471400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:86470200-86471600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:86470200-86471600	Enhancers	HMEC	breast
6	chr13:86470200-86471600	Enhancers	NHEK	skin
7	chr13:86470400-86471200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:86474200-86475000	Enhancers	Liver	Liver
9	chr13:86479600-86483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:86480400-86480800	Enhancers	Fetal Heart	heart
11	chr13:86483400-86483600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:86483600-86491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:86491600-86493000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:86491800-86492000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr13:86493000-86493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:86504000-86505000	Enhancers	Liver	Liver
17	chr13:86504200-86504600	Enhancers	HepG2	liver
18	chr13:86509200-86512400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:86528400-86528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
23	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
31	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
34	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
35	chr13:86548800-86549400	Enhancers	HMEC	breast
36	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:86549000-86549400	Enhancers	NH-A	brain
39	chr13:86549200-86549600	Active TSS	Right Atrium	heart
40	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
47	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:86569800-86570400	Active TSS	A549	lung

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