Variant report

Variant	nsv818984
Chromosome Location	chr13:86529275-86545903
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	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
2	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
3	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
4	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
5	CTCF	chr13:86541320-86541470	GM12872	blood:	n/a	n/a
6	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
7	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
8	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
9	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
10	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
11	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
12	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
13	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
14	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
15	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
16	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
17	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
18	CTCF	chr13:86544980-86545130	HEEpiC	esophagus:	n/a	chr13:86545043-86545064
19	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
20	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
21	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
22	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
24	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
25	E2F4	chr13:86539199-86539230	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr13:86544900-86545286	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr13:86544168-86544284	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr13:86545537-86545817	T-47D	breast:	n/a	n/a
29	EP300	chr13:86545472-86545977	T-47D	breast:	n/a	n/a
30	FOXA1	chr13:86545618-86545862	T-47D	breast:	n/a	n/a
31	FOXA1	chr13:86545536-86545904	T-47D	breast:	n/a	n/a
32	GATA3	chr13:86545595-86545931	T-47D	breast:	n/a	chr13:86545692-86545699
33	GATA3	chr13:86545460-86546047	T-47D	breast:	n/a	chr13:86545692-86545699
34	GATA3	chr13:86529557-86529691	SH-SY5Y	brain:	n/a	n/a
35	JUND	chr13:86545540-86545885	T-47D	breast:	n/a	n/a
36	KAP1	chr13:86541348-86541565	HEK293	kidney:	n/a	n/a
37	MAFK	chr13:86538832-86539035	HepG2	liver:	n/a	n/a
38	MAFK	chr13:86538764-86539026	HepG2	liver:	n/a	n/a
39	MYC	chr13:86534473-86534475	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr13:86545852-86545904	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr13:86543146-86543198	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr13:86539243-86539459	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr13:86528917-86529402	H1-neurons	neurons:	n/a	n/a
44	RAD21	chr13:86544926-86545303	ECC-1	luminal epithelium:	n/a	chr13:86545042-86545061
45	RAD21	chr13:86544912-86545217	A549	lung:	n/a	chr13:86545042-86545061
46	RAD21	chr13:86544934-86545235	H1-hESC	embryonic stem cell:	n/a	chr13:86545042-86545061
47	RAD21	chr13:86544906-86545155	H1-hESC	embryonic stem cell:	n/a	chr13:86545042-86545061
48	RAD21	chr13:86544855-86545263	HCT-116	colon:	n/a	chr13:86545042-86545061
49	RAD21	chr13:86544887-86545269	Hela-S3	cervix:	n/a	chr13:86545042-86545061
50	RAD21	chr13:86544920-86545228	SK-N-SH_RA	brain:	n/a	chr13:86545042-86545061

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 306 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

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:9 , 50 per page) page: 1

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

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