Variant report

Variant	nsv456054
Chromosome Location	chr13:86542148-86575869
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	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
2	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
4	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
5	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
6	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
7	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
8	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
9	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
11	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
12	CTCF	chr13:86551055-86551337	GM12878	blood:	n/a	n/a
13	CTCF	chr13:86544980-86545130	HEEpiC	esophagus:	n/a	chr13:86545043-86545064
14	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
15	CTCF	chr13:86551143-86551216	LNCaP	prostate:	n/a	n/a
16	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
17	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
18	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
19	CTCF	chr13:86551060-86551210	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
22	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
24	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
25	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
26	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
27	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
28	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
29	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
30	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
31	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
32	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
33	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
34	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
35	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
36	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
37	CUX1	chr13:86570223-86570340	GM12878	blood:	n/a	n/a
38	CUX1	chr13:86565561-86565609	GM12878	blood:	n/a	n/a
39	E2F4	chr13:86544168-86544284	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr13:86544900-86545286	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr13:86551080-86551098	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F6	chr13:86564465-86564914	H1-hESC	embryonic stem cell:	n/a	n/a
43	EBF1	chr13:86556170-86556530	GM12878	blood:	n/a	n/a
44	ELK1	chr13:86564557-86564581	Hela-S3	cervix:	n/a	n/a
45	EP300	chr13:86561001-86561588	T-47D	breast:	n/a	n/a
46	EP300	chr13:86559991-86560335	Hela-S3	cervix:	n/a	n/a
47	EP300	chr13:86559694-86560530	ECC-1	luminal epithelium:	n/a	chr13:86559711-86559718
48	EP300	chr13:86545537-86545817	T-47D	breast:	n/a	n/a
49	EP300	chr13:86545472-86545977	T-47D	breast:	n/a	n/a
50	ESR1	chr13:86570119-86570349	T-47D	breast:	n/a	n/a

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

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 475 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9602902	chr13:86542148-86542149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576426002	chr13:86542165-86542166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61968770	chr13:86542204-86542205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139949697	chr13:86542222-86542223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73545703	chr13:86542226-86542227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562014604	chr13:86542274-86542275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573910474	chr13:86542283-86542284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149567278	chr13:86542304-86542305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545773780	chr13:86542359-86542360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71442110	chr13:86542380-86542381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551976812	chr13:86542381-86542382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564078686	chr13:86542391-86542392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531306586	chr13:86542401-86542402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8002434	chr13:86542418-86542419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568399040	chr13:86542473-86542474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554246369	chr13:86542485-86542486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535365399	chr13:86542489-86542490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547619833	chr13:86542559-86542560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7984504	chr13:86542606-86542607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148697265	chr13:86542620-86542621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558529896	chr13:86542658-86542659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182146941	chr13:86542669-86542670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374583702	chr13:86542736-86542737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569734506	chr13:86542746-86542747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537011758	chr13:86542749-86542750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34445675	chr13:86542764-86542765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142220437	chr13:86542796-86542797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574300654	chr13:86542851-86542852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186738990	chr13:86542866-86542867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191541902	chr13:86542941-86542942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184032913	chr13:86543012-86543013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578079401	chr13:86543019-86543020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12876284	chr13:86543077-86543078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564137745	chr13:86543176-86543177	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs188934146	chr13:86543192-86543193	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs12875762	chr13:86543281-86543282	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561666754	chr13:86543288-86543289	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs146739211	chr13:86543289-86543290	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs193029165	chr13:86543332-86543333	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs116103093	chr13:86543337-86543338	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs35031087	chr13:86543340-86543341	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs532953206	chr13:86543376-86543377	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs551473609	chr13:86543395-86543396	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs569846282	chr13:86543448-86543449	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs537122874	chr13:86543485-86543486	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs12875825	chr13:86543564-86543565	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12875981	chr13:86543579-86543580	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535335208	chr13:86543605-86543606	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs35340129	chr13:86543643-86543644	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375676598	chr13:86543659-86543660	Enhancers Weak transcription	lncRNA	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
2	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
7	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
10	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
11	chr13:86548800-86549400	Enhancers	HMEC	breast
12	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:86549000-86549400	Enhancers	NH-A	brain
15	chr13:86549200-86549600	Active TSS	Right Atrium	heart
16	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
23	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:86569800-86570400	Active TSS	A549	lung
27	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
28	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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