Variant report

Variant	nsv900746
Chromosome Location	chr13:86498444-86618098
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	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
2	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
4	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
5	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
6	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
7	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
8	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
9	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
10	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
11	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
13	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
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	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
17	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
18	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
19	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
20	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
21	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
22	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
25	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
26	CTCF	chr13:86599192-86599250	Medullo	brain:	n/a	n/a
27	CTCF	chr13:86551060-86551210	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr13:86544980-86545130	HEEpiC	esophagus:	n/a	chr13:86545043-86545064
29	CTCF	chr13:86509920-86510070	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
31	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
32	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
33	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
34	CTCF	chr13:86517100-86517250	HRE	kidney:	n/a	n/a
35	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
36	CTCF	chr13:86551055-86551337	GM12878	blood:	n/a	n/a
37	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
38	CTCF	chr13:86599196-86599277	Lung_OC	lung:	n/a	n/a
39	CTCF	chr13:86551143-86551216	LNCaP	prostate:	n/a	n/a
40	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
41	CTCF	chr13:86608152-86608211	GM20000	blood:	n/a	n/a
42	CTCF	chr13:86599186-86599263	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
44	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
45	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
46	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
47	CTCF	chr13:86541320-86541470	GM12872	blood:	n/a	n/a
48	CTCF	chr13:86507147-86507184	GM13977	blood:	n/a	n/a
49	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
50	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064

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

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 1526 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188693976	chr13:86504015-86504016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554338194	chr13:86504045-86504046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114697220	chr13:86504056-86504057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73541867	chr13:86504091-86504092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530554789	chr13:86504130-86504131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550189945	chr13:86504197-86504198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558156273	chr13:86504204-86504205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576676985	chr13:86504272-86504273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185172548	chr13:86504294-86504295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190765363	chr13:86504298-86504299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574179471	chr13:86504335-86504336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182328065	chr13:86504345-86504346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143431747	chr13:86504349-86504350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527355571	chr13:86504351-86504352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34148434	chr13:86504370-86504371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148380999	chr13:86504402-86504403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187326655	chr13:86504438-86504439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9531890	chr13:86504474-86504475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549856512	chr13:86504479-86504480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73541869	chr13:86504536-86504537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563222096	chr13:86504560-86504561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9547443	chr13:86504577-86504578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143302499	chr13:86504582-86504583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147518134	chr13:86504595-86504596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67569590	chr13:86504652-86504653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138475892	chr13:86504682-86504683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375755760	chr13:86504692-86504693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35501433	chr13:86504701-86504702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75644638	chr13:86504715-86504716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111824563	chr13:86504720-86504721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191830290	chr13:86504750-86504751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574239219	chr13:86504755-86504756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541246096	chr13:86504805-86504806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9602873	chr13:86504825-86504826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs61971088	chr13:86504831-86504832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545531330	chr13:86504856-86504857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183603394	chr13:86504859-86504860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540179797	chr13:86504860-86504861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543392302	chr13:86504868-86504869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78370388	chr13:86504901-86504902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534994390	chr13:86504919-86504920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143936218	chr13:86504935-86504936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201763439	chr13:86504962-86504963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200288738	chr13:86504968-86504969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372577938	chr13:86504969-86504970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547617355	chr13:86504971-86504972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74653810	chr13:86504972-86504973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79851067	chr13:86504973-86504974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79640310	chr13:86504974-86504975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185543282	chr13:86504976-86504977	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86504000-86505000	Enhancers	Liver	Liver
2	chr13:86504200-86504600	Enhancers	HepG2	liver
3	chr13:86509200-86512400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:86528400-86528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
8	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
16	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
19	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
20	chr13:86548800-86549400	Enhancers	HMEC	breast
21	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:86549000-86549400	Enhancers	NH-A	brain
24	chr13:86549200-86549600	Active TSS	Right Atrium	heart
25	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
32	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:86569800-86570400	Active TSS	A549	lung
36	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
37	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:86576600-86578000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:86576800-86577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:86580400-86580800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr13:86580400-86581200	Enhancers	Fetal Lung	lung
42	chr13:86581200-86586200	Weak transcription	Fetal Lung	lung
43	chr13:86585600-86587000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:86586200-86586600	Enhancers	Fetal Lung	lung
45	chr13:86590400-86590600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:86590600-86591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:86591200-86593200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:86591400-86591600	Enhancers	Fetal Lung	lung
49	chr13:86591600-86593800	Weak transcription	Fetal Lung	lung
50	chr13:86593200-86593600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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