Variant report

Variant	nsv900748
Chromosome Location	chr13:86502548-86545903
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	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
2	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
3	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
4	CTCF	chr13:86541320-86541470	GM12872	blood:	n/a	n/a
5	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr13:86544980-86545130	HEEpiC	esophagus:	n/a	chr13:86545043-86545064
7	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
8	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
9	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
10	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
11	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
12	CTCF	chr13:86509920-86510070	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
14	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
15	CTCF	chr13:86517100-86517250	HRE	kidney:	n/a	n/a
16	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
17	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
18	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
19	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
20	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
21	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
22	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86507147-86507184	GM13977	blood:	n/a	n/a
24	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
25	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
26	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
27	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
28	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
29	E2F4	chr13:86539199-86539230	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr13:86544168-86544284	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr13:86544900-86545286	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr13:86545472-86545977	T-47D	breast:	n/a	n/a
33	EP300	chr13:86545537-86545817	T-47D	breast:	n/a	n/a
34	FOXA1	chr13:86504262-86504526	HepG2	liver:	n/a	n/a
35	FOXA1	chr13:86504315-86504566	HepG2	liver:	n/a	n/a
36	FOXA1	chr13:86545618-86545862	T-47D	breast:	n/a	n/a
37	FOXA1	chr13:86504281-86504693	HepG2	liver:	n/a	n/a
38	FOXA1	chr13:86545536-86545904	T-47D	breast:	n/a	n/a
39	FOXA1	chr13:86504227-86504550	HepG2	liver:	n/a	n/a
40	FOXA2	chr13:86525903-86526281	A549	lung:	n/a	n/a
41	FOXA2	chr13:86504325-86504546	HepG2	liver:	n/a	n/a
42	FOXA2	chr13:86526128-86526265	A549	lung:	n/a	n/a
43	GATA3	chr13:86545595-86545931	T-47D	breast:	n/a	chr13:86545692-86545699
44	GATA3	chr13:86518016-86518216	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr13:86545460-86546047	T-47D	breast:	n/a	chr13:86545692-86545699
46	GATA3	chr13:86529557-86529691	SH-SY5Y	brain:	n/a	n/a
47	HNF4A	chr13:86504357-86504613	HepG2	liver:	n/a	chr13:86504425-86504433 chr13:86504420-86504432 chr13:86504417-86504435 chr13:86504419-86504434 chr13:86504419-86504434 chr13:86504419-86504434 chr13:86504419-86504434
48	HNF4A	chr13:86504346-86504532	HepG2	liver:	n/a	chr13:86504425-86504433 chr13:86504420-86504432 chr13:86504417-86504435 chr13:86504419-86504434 chr13:86504419-86504434 chr13:86504419-86504434 chr13:86504419-86504434
49	JUND	chr13:86545540-86545885	T-47D	breast:	n/a	n/a
50	KAP1	chr13:86511570-86511730	HEK293	kidney:	n/a	n/a

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: 529 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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: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:13 , 50 per page) page: 1

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

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